LDHA (lactate dehydrogenase A) - Rat Genome Database

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Gene: LDHA (lactate dehydrogenase A) Homo sapiens
Analyze
Symbol: LDHA
Name: lactate dehydrogenase A
RGD ID: 736025
HGNC Page HGNC:6535
Description: Enables L-lactate dehydrogenase activity and identical protein binding activity. Involved in lactate metabolic process and pyruvate metabolic process. Located in oxidoreductase complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cell proliferation-inducing gene 19 protein; epididymis secretory sperm binding protein Li 133P; GSD11; HEL-S-133P; L-lactate dehydrogenase A chain; lactate dehydrogenase M; LDH muscle subunit; LDH-A; LDH-M; LDH1; LDHM; PIG19; proliferation-inducing gene 19; renal carcinoma antigen NY-REN-59
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Related Pseudogenes: LDHAP1   LDHAP2   LDHAP3   LDHAP4   LDHAP5   LDHAP7  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381118,394,563 - 18,408,425 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1118,394,560 - 18,408,425 (+)EnsemblGRCh38hg38GRCh38
GRCh371118,416,110 - 18,429,972 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361118,372,687 - 18,385,969 (+)NCBINCBI36Build 36hg18NCBI36
Build 341118,372,686 - 18,385,969NCBI
Celera1118,550,876 - 18,564,695 (+)NCBICelera
Cytogenetic Map11p15.1NCBI
HuRef1118,101,143 - 18,114,981 (+)NCBIHuRef
CHM1_11118,415,425 - 18,429,229 (+)NCBICHM1_1
T2T-CHM13v2.01118,492,694 - 18,506,551 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (ISO)
(+)-dexrazoxane  (ISO)
(1->4)-beta-D-glucan  (ISO)
(E)-thiamethoxam  (ISO)
(R)-carnitine  (ISO)
(R,R)-tramadol  (EXP)
(R,R,R)-alpha-tocopherol  (EXP,ISO)
(S)-colchicine  (ISO)
(S)-ropivacaine  (EXP)
(Z)-3-butylidenephthalide  (EXP)
1,10-phenanthroline  (EXP)
1,3-dichloropropan-2-ol  (ISO)
1,4-benzoquinone  (EXP)
1-[(2,3,4-trimethoxyphenyl)methyl]piperazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-D  (ISO)
2,6-dinitrotoluene  (ISO)
2-deoxy-D-glucose  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
3-bromopyruvic acid  (ISO)
3-methyladenine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (EXP)
4-phenylbutyric acid  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aconitine  (ISO)
acrylamide  (EXP)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-naphthoflavone  (EXP)
AM-251  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
ammonium hexachloroplatinate  (EXP)
Ammothamnine  (ISO)
amphetamine  (ISO)
apremilast  (ISO)
aristolochic acid A  (EXP,ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
azoxystrobin  (EXP)
barium chloride  (ISO)
benidipine  (ISO)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bezafibrate  (ISO)
bicalutamide  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
Brodifacoum  (ISO)
bruceine D  (EXP)
bucladesine  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
calcitriol  (EXP)
carbon nanotube  (EXP,ISO)
carfilzomib  (ISO)
CCCP  (EXP)
celecoxib  (ISO)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
chromium(6+)  (EXP)
cis-caffeic acid  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
cobalt(2+) sulfate  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (ISO)
corilagin  (ISO)
coumarin  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP)
cylindrospermopsin  (EXP)
cyproconazole  (ISO)
cytochalasin D  (ISO)
D-glucose  (EXP,ISO)
DDT  (EXP)
desferrioxamine B  (EXP)
dexamethasone  (ISO)
dexmedetomidine  (EXP)
dextran sulfate  (ISO)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
diethylstilbestrol  (ISO)
difenoconazole  (ISO)
dihydroartemisinin  (EXP)
dihydrogen  (ISO)
dioxygen  (EXP,ISO)
diprotium  (ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
enzyme inhibitor  (EXP)
epalrestat  (ISO)
epoxiconazole  (ISO)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
fenthion  (ISO)
fentin chloride  (ISO)
fenvalerate  (ISO)
ferulic acid  (EXP)
fluoranthene  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fomepizole  (EXP)
formaldehyde  (EXP,ISO)
furan  (ISO)
Fusaric acid  (EXP)
gallic acid  (ISO)
gamma-hexachlorocyclohexane  (ISO)
genistein  (ISO)
gentamycin  (ISO)
Ginkgolide C  (ISO)
glucose  (EXP,ISO)
glyphosate  (ISO)
graphene oxide  (EXP)
graphite  (EXP)
GW 4064  (ISO)
hexachlorobenzene  (ISO)
hexamethylene diisocyanate  (EXP)
hypochlorous acid  (EXP)
indometacin  (ISO)
inulin  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
L-ascorbic acid  (EXP)
lead diacetate  (ISO)
letrozole  (ISO)
LY294002  (EXP)
maneb  (ISO)
mebendazole  (EXP)
medroxyprogesterone acetate  (EXP)
melamine  (ISO)
menadione  (EXP)
metformin  (ISO)
methidathion  (ISO)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
Monobutylphthalate  (ISO)
myricetin  (EXP)
N-acetyl-L-cysteine  (EXP,ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
NAD zwitterion  (ISO)
NAD(+)  (ISO)
naringin  (ISO)
nickel atom  (ISO)
nickel dichloride  (EXP,ISO)
nickel subsulfide  (ISO)
niclosamide  (EXP)
Nonidet P-40  (EXP)
Nonylphenol  (ISO)
ochratoxin A  (EXP)
oleuropein  (ISO)
oxamic acid  (EXP)
ozone  (EXP,ISO)
paclitaxel  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (EXP,ISO)
phenylmercury acetate  (EXP)
picoxystrobin  (EXP)
Pirarubicin  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
procarbazine  (ISO)
progesterone  (EXP,ISO)
propiconazole  (ISO)
Propiverine  (ISO)
propofol  (EXP)
prostaglandin A1  (ISO)
prostaglandin E2  (ISO)
puerarin  (ISO)
pyrimidifen  (EXP)
quartz  (ISO)
quercetin  (EXP,ISO)
reactive oxygen species  (EXP)
resveratrol  (EXP)
rotenone  (EXP,ISO)
roxadustat  (EXP)
Salinomycin  (EXP)
SB 431542  (EXP)
sildenafil citrate  (ISO)
silicon dioxide  (EXP)
sirolimus  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
spironolactone  (ISO)
sulfadimethoxine  (ISO)
sulindac sulfide  (EXP)
sunitinib  (EXP)
T-2 toxin  (ISO)
tadalafil  (ISO)
tamoxifen  (ISO)
tanespimycin  (EXP)
tapentadol  (EXP)
tauroursodeoxycholic acid  (EXP)
temozolomide  (EXP)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
thiamethoxam  (ISO)
thimerosal  (EXP)
thioacetamide  (EXP)
toxaphene  (ISO)
tramadol  (EXP)
trans-caffeic acid  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (EXP,ISO)
Triptolide  (ISO)
triptonide  (ISO)
tungsten  (ISO)
tunicamycin  (EXP)
ubiquinone-0  (EXP)
uranium atom  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vitamin E  (ISO)
Yessotoxin  (EXP)
zinc protoporphyrin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Effects of Tianshu Capsule on Spontaneously Hypertensive Rats as Revealed by 1H-NMR-Based Metabolic Profiling. Gao J, etal., Front Pharmacol. 2019 Sep 11;10:989. doi: 10.3389/fphar.2019.00989. eCollection 2019.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
4. Critical reduction in beta-cell mass results in two distinct outcomes over time. Adaptation with impaired glucose tolerance or decompensated diabetes. Laybutt DR, etal., J Biol Chem. 2003 Jan 31;278(5):2997-3005. Epub 2002 Nov 15.
5. Tumor induction by the c-Myc target genes rcl and lactate dehydrogenase A. Lewis BC, etal., Cancer Res. 2000 Nov 1;60(21):6178-83.
6. Effects of propofol on invasion and migration of colon cancer cells and JAK2/STAT3 signaling pathway. Liang B and Dong T, Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2020 Mar 28;45(3):290-296. doi: 10.11817/j.issn.1672-7347.2020.180704.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
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PMID:22863883   PMID:22897481   PMID:22923663   PMID:22926577   PMID:22939629   PMID:22948140   PMID:22961700   PMID:22990118   PMID:23025307   PMID:23125841   PMID:23166385   PMID:23184277  
PMID:23266049   PMID:23318563   PMID:23349634   PMID:23376485   PMID:23404405   PMID:23467744   PMID:23516535   PMID:23523103   PMID:23533145   PMID:23583676   PMID:23703029   PMID:23722553  
PMID:23797802   PMID:23859015   PMID:24086384   PMID:24332808   PMID:24337577   PMID:24366912   PMID:24401755   PMID:24457600   PMID:24608789   PMID:24634381   PMID:24679073   PMID:24711643  
PMID:24714743   PMID:24744144   PMID:24762230   PMID:24782655   PMID:24789077   PMID:24816116   PMID:24885701   PMID:24947925   PMID:25136121   PMID:25147182   PMID:25192599   PMID:25315684  
PMID:25324306   PMID:25333573   PMID:25342384   PMID:25394466   PMID:25416956   PMID:25458010   PMID:25468996   PMID:25502805   PMID:25524555   PMID:25664730   PMID:25670202   PMID:25737280  
PMID:25762632   PMID:25791837   PMID:25838393   PMID:25880801   PMID:25910212   PMID:25913622   PMID:25921289   PMID:25940091   PMID:25959826   PMID:25963833   PMID:25974097   PMID:25983002  
PMID:26014429   PMID:26043024   PMID:26062441   PMID:26217791   PMID:26254422   PMID:26261559   PMID:26344197   PMID:26484566   PMID:26496610   PMID:26499835   PMID:26618866   PMID:26638075  
PMID:26647830   PMID:26693507   PMID:26694942   PMID:26721441   PMID:26780311   PMID:26816005   PMID:26831064   PMID:26902416   PMID:26928265   PMID:26949251   PMID:26949739   PMID:26989901  
PMID:27025967   PMID:27027898   PMID:27150057   PMID:27182664   PMID:27223065   PMID:27324387   PMID:27342126   PMID:27374173   PMID:27432288   PMID:27458165   PMID:27462432   PMID:27511116  
PMID:27566995   PMID:27609421   PMID:27615379   PMID:27622920   PMID:27641098   PMID:27708237   PMID:27710971   PMID:27728898   PMID:28056913   PMID:28193910   PMID:28218905   PMID:28257841  
PMID:28302793   PMID:28314283   PMID:28330616   PMID:28443643   PMID:28461244   PMID:28514442   PMID:28515276   PMID:28516914   PMID:28581483   PMID:28680051   PMID:28693517   PMID:28729678  
PMID:28915924   PMID:29108994   PMID:29117863   PMID:29128334   PMID:29229926   PMID:29298432   PMID:29321091   PMID:29331416   PMID:29360449   PMID:29449217   PMID:29467282   PMID:29507755  
PMID:29509190   PMID:29511337   PMID:29569755   PMID:29704241   PMID:29715546   PMID:29735542   PMID:29845934   PMID:29872149   PMID:29891507   PMID:29925504   PMID:29950611   PMID:29970686  
PMID:30015851   PMID:30021884   PMID:30097533   PMID:30138330   PMID:30158244   PMID:30196744   PMID:30197328   PMID:30209241   PMID:30213286   PMID:30417313   PMID:30425250   PMID:30463901  
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PMID:32941674   PMID:32963011   PMID:33022573   PMID:33024031   PMID:33110235   PMID:33111431   PMID:33194618   PMID:33306668   PMID:33397691   PMID:33406399   PMID:33452143   PMID:33470415  
PMID:33545068   PMID:33571038   PMID:33658012   PMID:33663300   PMID:33664867   PMID:33677931   PMID:33714987   PMID:33729478   PMID:33742100   PMID:33756038   PMID:33762435   PMID:33838681  
PMID:33869196   PMID:33916271   PMID:33961781   PMID:33962616   PMID:34022218   PMID:34051289   PMID:34079125   PMID:34110068   PMID:34133714   PMID:34168116   PMID:34185423   PMID:34217785  
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PMID:34482592   PMID:34495869   PMID:34635009   PMID:34708888   PMID:34709727   PMID:34728620   PMID:34732716   PMID:35092510   PMID:35102488   PMID:35191522   PMID:35256949   PMID:35271311  
PMID:35278714   PMID:35338135   PMID:35343073   PMID:35349377   PMID:35356984   PMID:35359405   PMID:35446349   PMID:35509820   PMID:35545034   PMID:35562734   PMID:35563538   PMID:35583604  
PMID:35615882   PMID:35676659   PMID:35794505   PMID:35831314   PMID:35831895   PMID:35832094   PMID:35844135   PMID:35858615   PMID:35944360   PMID:36033372   PMID:36055981   PMID:36064857  
PMID:36096316   PMID:36109751   PMID:36114006   PMID:36215168   PMID:36217030   PMID:36239424   PMID:36244648   PMID:36282215   PMID:36292720   PMID:36339263   PMID:36371026   PMID:36373674  
PMID:36380368   PMID:36471172   PMID:36517590   PMID:36526897   PMID:36543142   PMID:36555705   PMID:36574265   PMID:36583693   PMID:36604567   PMID:36628612   PMID:36640330   PMID:36737428  
PMID:36762613   PMID:36880596   PMID:36912760   PMID:36923931   PMID:36937004   PMID:37120454   PMID:37161284   PMID:37232246   PMID:37298317   PMID:37326348   PMID:37536630   PMID:37547725  
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Genomics

Comparative Map Data
LDHA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381118,394,563 - 18,408,425 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1118,394,560 - 18,408,425 (+)EnsemblGRCh38hg38GRCh38
GRCh371118,416,110 - 18,429,972 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361118,372,687 - 18,385,969 (+)NCBINCBI36Build 36hg18NCBI36
Build 341118,372,686 - 18,385,969NCBI
Celera1118,550,876 - 18,564,695 (+)NCBICelera
Cytogenetic Map11p15.1NCBI
HuRef1118,101,143 - 18,114,981 (+)NCBIHuRef
CHM1_11118,415,425 - 18,429,229 (+)NCBICHM1_1
T2T-CHM13v2.01118,492,694 - 18,506,551 (+)NCBIT2T-CHM13v2.0
Ldha
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39746,491,698 - 46,505,051 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl746,490,899 - 46,505,051 (+)EnsemblGRCm39 Ensembl
GRCm38746,842,274 - 46,855,627 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl746,841,475 - 46,855,627 (+)EnsemblGRCm38mm10GRCm38
MGSCv37754,101,174 - 54,110,997 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36746,715,255 - 46,723,668 (+)NCBIMGSCv36mm8
Celera742,325,754 - 42,335,573 (+)NCBICelera
Cytogenetic Map7B3NCBI
cM Map730.6NCBI
Ldha
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81106,508,092 - 106,517,512 (+)NCBIGRCr8
mRatBN7.2197,371,823 - 97,381,247 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl197,366,021 - 97,433,472 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1102,764,365 - 102,773,796 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01111,236,347 - 111,245,778 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01104,520,156 - 104,529,575 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01102,900,288 - 102,909,713 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1102,900,286 - 102,909,707 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01103,975,209 - 103,984,638 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4197,403,077 - 97,412,547 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1197,481,187 - 97,490,658 (+)NCBI
Celera191,618,363 - 91,627,752 (+)NCBICelera
Cytogenetic Map1q22NCBI
Ldha
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541433,087,745 - 33,100,846 (+)NCBIChiLan1.0ChiLan1.0
LDHA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2920,711,342 - 20,724,695 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11120,671,712 - 20,685,058 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01118,432,347 - 18,445,694 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11118,115,250 - 18,128,400 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1118,115,250 - 18,128,400 (+)Ensemblpanpan1.1panPan2
LDHA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12140,829,844 - 40,840,947 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2140,309,124 - 40,320,220 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02141,953,737 - 41,963,155 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12140,945,678 - 40,956,764 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02141,134,448 - 41,145,537 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02141,511,954 - 41,523,047 (+)NCBIUU_Cfam_GSD_1.0
Ldha
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494744,832,627 - 44,845,986 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936528866,607 - 879,977 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LDHA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl240,814,169 - 40,826,715 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1240,814,163 - 40,827,284 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2243,896,319 - 43,909,457 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LDHA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1146,525,090 - 46,542,587 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666038143,887,277 - 143,900,854 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in LDHA
175 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005566.4(LDHA):c.759_778del (p.Leu254fs) deletion Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000015667] Chr11:18405493..18405512 [GRCh38]
Chr11:18427040..18427059 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_005566.4(LDHA):c.985G>T (p.Glu329Ter) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000015668] Chr11:18407267 [GRCh38]
Chr11:18428814 [GRCh37]
Chr11:11p15.1		 pathogenic|uncertain significance
NM_005566.4(LDHA):c.681del (p.Gln226_Trp227insTer) deletion not provided [RCV000722494] Chr11:18403781 [GRCh38]
Chr11:18425328 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.419-17T>C single nucleotide variant not specified [RCV000603054] Chr11:18402823 [GRCh38]
Chr11:18424370 [GRCh37]
Chr11:11p15.1		 likely benign
GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1 copy number loss See cases [RCV000052646] Chr11:17905089..19674505 [GRCh38]
Chr11:17926636..19696051 [GRCh37]
Chr11:17883212..19652627 [NCBI36]
Chr11:11p15.1		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
NM_181507.2(HPS5):c.896+1823G>A single nucleotide variant decreased blood alpha-hydroxyisovalerate levels [RCV000170568] Chr11:18303599 [GRCh38]
Chr11:18325146 [GRCh37]
Chr11:11p15.1		 association
NM_005566.4(LDHA):c.854A>T (p.Asp285Val) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003101687]|not provided [RCV002292833] Chr11:18407136 [GRCh38]
Chr11:18428683 [GRCh37]
Chr11:11p15.1		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_005566.4(LDHA):c.975G>T (p.Gly325=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001303233] Chr11:18407257 [GRCh38]
Chr11:18428804 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
NM_005566.4(LDHA):c.162C>T (p.Ile54=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002531522]|not specified [RCV000606512] Chr11:18399466 [GRCh38]
Chr11:18421013 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.*582C>T single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000283758] Chr11:18407863 [GRCh38]
Chr11:18429410 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.348C>A (p.Ile116=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000301366]|not provided [RCV000675419]|not specified [RCV000420324] Chr11:18400940 [GRCh38]
Chr11:18422487 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_005566.4(LDHA):c.777G>A (p.Leu259=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000371349]|not specified [RCV000443690] Chr11:18405515 [GRCh38]
Chr11:18427062 [GRCh37]
Chr11:11p15.1		 benign|likely benign|uncertain significance
NM_005566.4(LDHA):c.57C>T (p.Pro19=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000304518] Chr11:18396899 [GRCh38]
Chr11:18418446 [GRCh37]
Chr11:11p15.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_005566.4(LDHA):c.*725T>G single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000350267] Chr11:18408006 [GRCh38]
Chr11:18429553 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.*253G>A single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000272197] Chr11:18407534 [GRCh38]
Chr11:18429081 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.*622A>G single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000379292] Chr11:18407903 [GRCh38]
Chr11:18429450 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.222A>G (p.Thr74=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000402833] Chr11:18399526 [GRCh38]
Chr11:18421073 [GRCh37]
Chr11:11p15.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_005566.4(LDHA):c.483C>T (p.Ser161=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000275395]|not provided [RCV000675422]|not specified [RCV000425020] Chr11:18402904 [GRCh38]
Chr11:18424451 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.*745T>C single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000403870] Chr11:18408026 [GRCh38]
Chr11:18429573 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.*817A>C single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000315010] Chr11:18408098 [GRCh38]
Chr11:18429645 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.951G>A (p.Lys317=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000276732] Chr11:18407233 [GRCh38]
Chr11:18428780 [GRCh37]
Chr11:11p15.1		 benign|likely benign|uncertain significance
NM_005566.4(LDHA):c.*639T>C single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000280093] Chr11:18407920 [GRCh38]
Chr11:18429467 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.*720C>G single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000281099] Chr11:18408001 [GRCh38]
Chr11:18429548 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.*311C>T single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000327275] Chr11:18407592 [GRCh38]
Chr11:18429139 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.519A>G (p.Leu173=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000311842]|not provided [RCV000675423]|not specified [RCV000437558] Chr11:18402940 [GRCh38]
Chr11:18424487 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.387G>A (p.Pro129=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000356137]|not specified [RCV000429090] Chr11:18400979 [GRCh38]
Chr11:18422526 [GRCh37]
Chr11:11p15.1		 benign|uncertain significance
NM_005566.4(LDHA):c.*243C>G single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000381791]|not provided [RCV001549848] Chr11:18407524 [GRCh38]
Chr11:18429071 [GRCh37]
Chr11:11p15.1		 benign|likely benign|uncertain significance
NM_005566.4(LDHA):c.*660C>T single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000335194] Chr11:18407941 [GRCh38]
Chr11:18429488 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.*706G>A single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000407957] Chr11:18407987 [GRCh38]
Chr11:18429534 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.958G>A (p.Ala320Thr) single nucleotide variant not provided [RCV000489077] Chr11:18407240 [GRCh38]
Chr11:18428787 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.-24-260dup duplication not provided [RCV000722344] Chr11:18396556..18396557 [GRCh38]
Chr11:18418103..18418104 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.126+3_126+6del deletion Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000336093]|not provided [RCV001090235] Chr11:18396969..18396972 [GRCh38]
Chr11:18418516..18418519 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.*835A>G single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000369721] Chr11:18408116 [GRCh38]
Chr11:18429663 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.3(LDHA):c.-152dup duplication Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000407519] Chr11:18394501..18394502 [GRCh38]
Chr11:18416048..18416049 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.*175C>T single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000327223] Chr11:18407456 [GRCh38]
Chr11:18429003 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.*501C>A single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000377282] Chr11:18407782 [GRCh38]
Chr11:18429329 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.*586A>G single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000343409] Chr11:18407867 [GRCh38]
Chr11:18429414 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.696G>C (p.Lys232Asn) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000556498]|LDHA-related condition [RCV003960358] Chr11:18403797 [GRCh38]
Chr11:18425344 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.*15A>G single nucleotide variant not provided [RCV001704538] Chr11:18407296 [GRCh38]
Chr11:18428843 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.285G>A (p.Thr95=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001107661]|not specified [RCV000436813] Chr11:18400877 [GRCh38]
Chr11:18422424 [GRCh37]
Chr11:11p15.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005566.4(LDHA):c.183G>A (p.Glu61=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001107010]|not specified [RCV000441004] Chr11:18399487 [GRCh38]
Chr11:18421034 [GRCh37]
Chr11:11p15.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005566.4(LDHA):c.608G>C (p.Gly203Ala) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001104040]|LDHA-related condition [RCV003922749]|not provided [RCV000675426]|not specified [RCV000423489] Chr11:18403709 [GRCh38]
Chr11:18425256 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_005566.4(LDHA):c.*89T>C single nucleotide variant LDHA-related condition [RCV003970145]|not specified [RCV000426989] Chr11:18407370 [GRCh38]
Chr11:18428917 [GRCh37]
Chr11:11p15.1		 likely benign
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_005566.4(LDHA):c.296G>A (p.Arg99His) single nucleotide variant Inborn genetic diseases [RCV003242739] Chr11:18400888 [GRCh38]
Chr11:18422435 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.558T>C (p.His186=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000648053] Chr11:18402979 [GRCh38]
Chr11:18424526 [GRCh37]
Chr11:11p15.1		 likely benign
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_005566.4(LDHA):c.835-19_835-15dup duplication not provided [RCV000675427] Chr11:18407090..18407091 [GRCh38]
Chr11:18428637..18428638 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.835-17_835-15dup duplication not provided [RCV000675429] Chr11:18407090..18407091 [GRCh38]
Chr11:18428637..18428638 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.439G>T (p.Ala147Ser) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001107663]|not provided [RCV000675421] Chr11:18402860 [GRCh38]
Chr11:18424407 [GRCh37]
Chr11:11p15.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005566.4(LDHA):c.568C>T (p.Leu190Phe) single nucleotide variant not provided [RCV000675424] Chr11:18402989 [GRCh38]
Chr11:18424536 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.435C>T (p.Tyr145=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001501387]|not provided [RCV000675420] Chr11:18402856 [GRCh38]
Chr11:18424403 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.592+30T>A single nucleotide variant not provided [RCV000675425] Chr11:18403043 [GRCh38]
Chr11:18424590 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.835-18_835-15dup duplication not provided [RCV000675428] Chr11:18407090..18407091 [GRCh38]
Chr11:18428637..18428638 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.835-16_835-15dup duplication not provided [RCV000675430] Chr11:18407090..18407091 [GRCh38]
Chr11:18428637..18428638 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.835-15del deletion not provided [RCV000675431] Chr11:18407091 [GRCh38]
Chr11:18428638 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.835-15dup duplication not provided [RCV000675432] Chr11:18407090..18407091 [GRCh38]
Chr11:18428637..18428638 [GRCh37]
Chr11:11p15.1		 benign
GRCh37/hg19 11p15.1(chr11:17527585-18606820)x1 copy number loss not provided [RCV000683355] Chr11:17527585..18606820 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_005566.4(LDHA):c.419-277G>C single nucleotide variant not provided [RCV001565487] Chr11:18402563 [GRCh38]
Chr11:18424110 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.675del (p.Glu225fs) deletion Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV000779053] Chr11:18403775 [GRCh38]
Chr11:18425322 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.39A>C (p.Leu13=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002548446] Chr11:18396881 [GRCh38]
Chr11:18418428 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.710+9T>A single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001522506] Chr11:18403820 [GRCh38]
Chr11:18425367 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.127-102T>G single nucleotide variant not provided [RCV000835665] Chr11:18399329 [GRCh38]
Chr11:18420876 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.593-302G>A single nucleotide variant not provided [RCV000832701] Chr11:18403392 [GRCh38]
Chr11:18424939 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.593-223T>C single nucleotide variant not provided [RCV000843174] Chr11:18403471 [GRCh38]
Chr11:18425018 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.711-200T>G single nucleotide variant not provided [RCV000843176] Chr11:18405249 [GRCh38]
Chr11:18426796 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.126+204C>T single nucleotide variant not provided [RCV000843171] Chr11:18397172 [GRCh38]
Chr11:18418719 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.127-173T>A single nucleotide variant not provided [RCV000843172] Chr11:18399258 [GRCh38]
Chr11:18420805 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.419-164G>C single nucleotide variant not provided [RCV000843173] Chr11:18402676 [GRCh38]
Chr11:18424223 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.834+198A>G single nucleotide variant not provided [RCV000843177] Chr11:18405770 [GRCh38]
Chr11:18427317 [GRCh37]
Chr11:11p15.1		 benign
GRCh37/hg19 11p15.1(chr11:16775884-18418719)x3 copy number gain not provided [RCV000848590] Chr11:16775884..18418719 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.419-109A>C single nucleotide variant not provided [RCV000843242] Chr11:18402731 [GRCh38]
Chr11:18424278 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.592+125T>G single nucleotide variant not provided [RCV000843243] Chr11:18403138 [GRCh38]
Chr11:18424685 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.711-8T>A single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003514420]|not provided [RCV000840738] Chr11:18405441 [GRCh38]
Chr11:18426988 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.594G>C (p.Val198=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002495202]|not provided [RCV000841310] Chr11:18403695 [GRCh38]
Chr11:18425242 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.419-269A>T single nucleotide variant not provided [RCV000844392] Chr11:18402571 [GRCh38]
Chr11:18424118 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.711-340A>T single nucleotide variant not provided [RCV000844394] Chr11:18405109 [GRCh38]
Chr11:18426656 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.834+268_834+271del deletion not provided [RCV000844395] Chr11:18405840..18405843 [GRCh38]
Chr11:18427387..18427390 [GRCh37]
Chr11:11p15.1		 benign
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_005566.4(LDHA):c.284C>T (p.Thr95Met) single nucleotide variant not provided [RCV000994580] Chr11:18400876 [GRCh38]
Chr11:18422423 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.*48C>T single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001104340] Chr11:18407329 [GRCh38]
Chr11:18428876 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.*52G>T single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001104341] Chr11:18407333 [GRCh38]
Chr11:18428880 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.*666C>T single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001107766] Chr11:18407947 [GRCh38]
Chr11:18429494 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.126+213G>A single nucleotide variant not provided [RCV001564148] Chr11:18397181 [GRCh38]
Chr11:18418728 [GRCh37]
Chr11:11p15.1		 likely benign
NC_000011.10:g.18394268C>T single nucleotide variant not provided [RCV001534530] Chr11:18394268 [GRCh38]
Chr11:18415815 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.711-275G>A single nucleotide variant not provided [RCV001561593] Chr11:18405174 [GRCh38]
Chr11:18426721 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.710+339dup duplication not provided [RCV001696711] Chr11:18404140..18404141 [GRCh38]
Chr11:18425687..18425688 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.245-266dup duplication not provided [RCV001639962] Chr11:18400566..18400567 [GRCh38]
Chr11:18422113..18422114 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.672G>A (p.Lys224=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001436748] Chr11:18403773 [GRCh38]
Chr11:18425320 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.291G>A (p.Gly97=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001462621] Chr11:18400883 [GRCh38]
Chr11:18422430 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.-64T>C single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001107005] Chr11:18394597 [GRCh38]
Chr11:18416144 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.*604A>T single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001107098] Chr11:18407885 [GRCh38]
Chr11:18429432 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.406G>A (p.Val136Ile) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001107662] Chr11:18400998 [GRCh38]
Chr11:18422545 [GRCh37]
Chr11:11p15.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_005566.4(LDHA):c.538G>T (p.Val180Phe) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001104039] Chr11:18402959 [GRCh38]
Chr11:18424506 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.*762T>G single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001104125] Chr11:18408043 [GRCh38]
Chr11:18429590 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.*18T>C single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001104339] Chr11:18407299 [GRCh38]
Chr11:18428846 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.592+7A>G single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001060189] Chr11:18403020 [GRCh38]
Chr11:18424567 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.711-276T>C single nucleotide variant not provided [RCV001570644] Chr11:18405173 [GRCh38]
Chr11:18426720 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.-24-783G>A single nucleotide variant not provided [RCV001664954] Chr11:18396036 [GRCh38]
Chr11:18417583 [GRCh37]
Chr11:11p15.1		 benign
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3 copy number gain not provided [RCV001006387] Chr11:11053978..34732891 [GRCh37]
Chr11:11p15.3-13		 pathogenic
NM_005566.4(LDHA):c.835-103dup duplication not provided [RCV001718556] Chr11:18407005..18407006 [GRCh38]
Chr11:18428552..18428553 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.244+142C>T single nucleotide variant not provided [RCV001718000] Chr11:18399690 [GRCh38]
Chr11:18421237 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.126+170A>G single nucleotide variant not provided [RCV001593808] Chr11:18397138 [GRCh38]
Chr11:18418685 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.249T>C (p.Tyr83=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001107660] Chr11:18400841 [GRCh38]
Chr11:18422388 [GRCh37]
Chr11:11p15.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_005566.4(LDHA):c.*694C>T single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001107767] Chr11:18407975 [GRCh38]
Chr11:18429522 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.*228G>A single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001104343] Chr11:18407509 [GRCh38]
Chr11:18429056 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.30T>C (p.Tyr10=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001107007] Chr11:18396872 [GRCh38]
Chr11:18418419 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.-24-10C>G single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001107006]|LDHA-related condition [RCV003918687] Chr11:18396809 [GRCh38]
Chr11:18418356 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.137A>T (p.Asp46Val) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001107009] Chr11:18399441 [GRCh38]
Chr11:18420988 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.*312G>A single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001107097] Chr11:18407593 [GRCh38]
Chr11:18429140 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3 copy number gain not provided [RCV001006388] Chr11:13970757..27565888 [GRCh37]
Chr11:11p15.2-14.1		 pathogenic
NM_005566.4(LDHA):c.-25+130A>C single nucleotide variant not provided [RCV001714537] Chr11:18394766 [GRCh38]
Chr11:18416313 [GRCh37]
Chr11:11p15.1		 benign
NM_005566.4(LDHA):c.-24-640A>T single nucleotide variant not provided [RCV001588077] Chr11:18396179 [GRCh38]
Chr11:18417726 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.984G>A (p.Lys328=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001104041] Chr11:18407266 [GRCh38]
Chr11:18428813 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.764_765del (p.Ser255fs) microsatellite Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001207792] Chr11:18405498..18405499 [GRCh38]
Chr11:18427045..18427046 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.47A>G (p.Glu16Gly) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001107008] Chr11:18396889 [GRCh38]
Chr11:18418436 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.*914A>G single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001104126] Chr11:18408195 [GRCh38]
Chr11:18429742 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.*129A>G single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001104342] Chr11:18407410 [GRCh38]
Chr11:18428957 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh37/hg19 11p15.1(chr11:18418095-18422557) copy number loss Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001254093] Chr11:18418095..18422557 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_005566.4(LDHA):c.944G>A (p.Arg315His) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001303380] Chr11:18407226 [GRCh38]
Chr11:18428773 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.8C>T (p.Thr3Ile) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001351584]|not provided [RCV001586145] Chr11:18396850 [GRCh38]
Chr11:18418397 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.-24-608G>T single nucleotide variant not provided [RCV001539069] Chr11:18396211 [GRCh38]
Chr11:18417758 [GRCh37]
Chr11:11p15.1		 likely benign
NC_000011.9:g.(?_17552691)_(19213995_?)dup duplication Progressive myoclonic epilepsy type 7 [RCV001295201] Chr11:17552691..19213995 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.163G>A (p.Glu55Lys) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001351844] Chr11:18399467 [GRCh38]
Chr11:18421014 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.476T>A (p.Ile159Asn) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001329431] Chr11:18402897 [GRCh38]
Chr11:18424444 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.138T>C (p.Asp46=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001423699] Chr11:18399442 [GRCh38]
Chr11:18420989 [GRCh37]
Chr11:11p15.1		 likely benign
NC_000011.9:g.(?_18420958)_(19213995_?)dup duplication Hypertrophic cardiomyopathy 12 [RCV001896615] Chr11:18420958..19213995 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.117C>G (p.Ile39Met) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002003045] Chr11:18396959 [GRCh38]
Chr11:18418506 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.925A>C (p.Thr309Pro) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002021375] Chr11:18407207 [GRCh38]
Chr11:18428754 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.470G>A (p.Arg157His) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001943073] Chr11:18402891 [GRCh38]
Chr11:18424438 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.833A>C (p.Lys278Thr) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001898598] Chr11:18405571 [GRCh38]
Chr11:18427118 [GRCh37]
Chr11:11p15.1		 uncertain significance
NC_000011.9:g.(?_18428644)_(18428828_?)dup duplication Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001981604] Chr11:18428644..18428828 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.170A>G (p.Lys57Arg) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV001918277] Chr11:18399474 [GRCh38]
Chr11:18421021 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.593-7C>A single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002078230] Chr11:18403687 [GRCh38]
Chr11:18425234 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.710+19T>C single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002093679] Chr11:18403830 [GRCh38]
Chr11:18425377 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.127-14T>C single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002100224] Chr11:18399417 [GRCh38]
Chr11:18420964 [GRCh37]
Chr11:11p15.1		 likely benign
NC_000011.9:g.(?_18418390)_(19204313_?)del deletion Hypertrophic cardiomyopathy 12 [RCV003113264] Chr11:18418390..19204313 [GRCh37]
Chr11:11p15.1		 uncertain significance
NC_000011.9:g.(?_18301429)_(18428828_?)dup duplication Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003116391] Chr11:18301429..18428828 [GRCh37]
Chr11:11p15.1		 uncertain significance
NC_000011.9:g.(?_18420958)_(18428828_?)dup duplication Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003116392] Chr11:18420958..18428828 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
GRCh37/hg19 11p15.1(chr11:17784556-18797650)x3 copy number gain not provided [RCV002474599] Chr11:17784556..18797650 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.280A>T (p.Ile94Phe) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002296434] Chr11:18400872 [GRCh38]
Chr11:18422419 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.719A>G (p.Glu240Gly) single nucleotide variant Inborn genetic diseases [RCV002880133] Chr11:18405457 [GRCh38]
Chr11:18427004 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.52A>G (p.Thr18Ala) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002971175] Chr11:18396894 [GRCh38]
Chr11:18418441 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.943C>T (p.Arg315Cys) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002974986] Chr11:18407225 [GRCh38]
Chr11:18428772 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.57C>G (p.Pro19=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002819978] Chr11:18396899 [GRCh38]
Chr11:18418446 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.269A>G (p.Lys90Arg) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003077051]|Inborn genetic diseases [RCV003077050]|not provided [RCV003481377] Chr11:18400861 [GRCh38]
Chr11:18422408 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.835-14C>T single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002903200] Chr11:18407103 [GRCh38]
Chr11:18428650 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.53C>G (p.Thr18Ser) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002971053] Chr11:18396895 [GRCh38]
Chr11:18418442 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.484G>A (p.Gly162Ser) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002775206] Chr11:18402905 [GRCh38]
Chr11:18424452 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.460C>T (p.Pro154Ser) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002775089] Chr11:18402881 [GRCh38]
Chr11:18424428 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.386C>G (p.Pro129Arg) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002755403] Chr11:18400978 [GRCh38]
Chr11:18422525 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.999_*1del (p.Phe332_Ter333insTer) deletion Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003075772] Chr11:18407280..18407281 [GRCh38]
Chr11:18428827..18428828 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.172T>C (p.Leu58=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003075781] Chr11:18399476 [GRCh38]
Chr11:18421023 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.300G>A (p.Gln100=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002623280] Chr11:18400892 [GRCh38]
Chr11:18422439 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.732C>T (p.Leu244=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002914297] Chr11:18405470 [GRCh38]
Chr11:18427017 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.493C>A (p.Leu165Met) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003002949] Chr11:18402914 [GRCh38]
Chr11:18424461 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.396G>T (p.Lys132Asn) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002736691] Chr11:18400988 [GRCh38]
Chr11:18422535 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.436G>A (p.Val146Met) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002756750] Chr11:18402857 [GRCh38]
Chr11:18424404 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.834+20C>T single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002591559] Chr11:18405592 [GRCh38]
Chr11:18427139 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.821C>T (p.Ser274Phe) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002780637] Chr11:18405559 [GRCh38]
Chr11:18427106 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.803G>A (p.Arg268Lys) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002662425] Chr11:18405541 [GRCh38]
Chr11:18427088 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.386C>T (p.Pro129Leu) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002620750] Chr11:18400978 [GRCh38]
Chr11:18422525 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.273G>C (p.Leu91=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002848355] Chr11:18400865 [GRCh38]
Chr11:18422412 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.332A>G (p.Gln111Arg) single nucleotide variant Inborn genetic diseases [RCV002926019] Chr11:18400924 [GRCh38]
Chr11:18422471 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.445A>G (p.Lys149Glu) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003077212] Chr11:18402866 [GRCh38]
Chr11:18424413 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.244G>A (p.Asp82Asn) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003058293] Chr11:18399548 [GRCh38]
Chr11:18421095 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_005566.4(LDHA):c.189G>A (p.Met63Ile) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002663365] Chr11:18399493 [GRCh38]
Chr11:18421040 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.844G>A (p.Gly282Arg) single nucleotide variant Inborn genetic diseases [RCV002850141] Chr11:18407126 [GRCh38]
Chr11:18428673 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.53C>T (p.Thr18Ile) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002574231] Chr11:18396895 [GRCh38]
Chr11:18418442 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.543C>T (p.His181=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002572338] Chr11:18402964 [GRCh38]
Chr11:18424511 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.711-3C>T single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003082245] Chr11:18405446 [GRCh38]
Chr11:18426993 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.126+2T>C single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002626065] Chr11:18396970 [GRCh38]
Chr11:18418517 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_005566.4(LDHA):c.248A>G (p.Tyr83Cys) single nucleotide variant Inborn genetic diseases [RCV002788644] Chr11:18400840 [GRCh38]
Chr11:18422387 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.339C>T (p.Asn113=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002628127] Chr11:18400931 [GRCh38]
Chr11:18422478 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.843C>T (p.Tyr281=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002598685] Chr11:18407125 [GRCh38]
Chr11:18428672 [GRCh37]
Chr11:11p15.1		 likely benign|conflicting interpretations of pathogenicity
NM_005566.4(LDHA):c.416C>T (p.Pro139Leu) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003065463] Chr11:18401008 [GRCh38]
Chr11:18422555 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.7A>G (p.Thr3Ala) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003090546] Chr11:18396849 [GRCh38]
Chr11:18418396 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.83T>C (p.Val28Ala) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003028453] Chr11:18396925 [GRCh38]
Chr11:18418472 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.334C>T (p.Arg112Cys) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002599314] Chr11:18400926 [GRCh38]
Chr11:18422473 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.505C>T (p.Arg169Ter) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003062348] Chr11:18402926 [GRCh38]
Chr11:18424473 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_005566.4(LDHA):c.245-11C>T single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003028616] Chr11:18400826 [GRCh38]
Chr11:18422373 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.762C>G (p.Leu254=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002578443] Chr11:18405500 [GRCh38]
Chr11:18427047 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.126G>A (p.Lys42=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002939071] Chr11:18396968 [GRCh38]
Chr11:18418515 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.808G>T (p.Val270Leu) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003063177] Chr11:18405546 [GRCh38]
Chr11:18427093 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.231T>C (p.Ile77=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003028958] Chr11:18399535 [GRCh38]
Chr11:18421082 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.340G>A (p.Val114Met) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002715857] Chr11:18400932 [GRCh38]
Chr11:18422479 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.369TGT[1] (p.Val125del) microsatellite Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003062347] Chr11:18400961..18400963 [GRCh38]
Chr11:18422508..18422510 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.824C>T (p.Thr275Ile) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003092807] Chr11:18405562 [GRCh38]
Chr11:18427109 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.810G>A (p.Val270=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002633271] Chr11:18405548 [GRCh38]
Chr11:18427095 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.315C>T (p.Ser105=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003066082] Chr11:18400907 [GRCh38]
Chr11:18422454 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.766G>A (p.Val256Ile) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002609813]|Inborn genetic diseases [RCV002609812] Chr11:18405504 [GRCh38]
Chr11:18427051 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.308G>A (p.Gly103Glu) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002586319] Chr11:18400900 [GRCh38]
Chr11:18422447 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.882T>C (p.Ile294=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002634772] Chr11:18407164 [GRCh38]
Chr11:18428711 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.710+5T>C single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002609519] Chr11:18403816 [GRCh38]
Chr11:18425363 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.861C>T (p.Val287=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002653848] Chr11:18407143 [GRCh38]
Chr11:18428690 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.121A>G (p.Met41Val) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV002610537] Chr11:18396963 [GRCh38]
Chr11:18418510 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.593-20G>A single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003070964] Chr11:18403674 [GRCh38]
Chr11:18425221 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.823A>G (p.Thr275Ala) single nucleotide variant Inborn genetic diseases [RCV003364927] Chr11:18405561 [GRCh38]
Chr11:18427108 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.512G>C (p.Arg171Pro) single nucleotide variant not provided [RCV003397971] Chr11:18402933 [GRCh38]
Chr11:18424480 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.410C>A (p.Ser137Ter) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003629716] Chr11:18401002 [GRCh38]
Chr11:18422549 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_005566.4(LDHA):c.631_632dup (p.Leu211_Lys212insTer) microsatellite Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003630842] Chr11:18403726..18403727 [GRCh38]
Chr11:18425273..18425274 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_005566.4(LDHA):c.126+17C>T single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003629897] Chr11:18396985 [GRCh38]
Chr11:18418532 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.710+16A>T single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003630385] Chr11:18403827 [GRCh38]
Chr11:18425374 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.835-14_835-11del deletion Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003629399] Chr11:18407101..18407104 [GRCh38]
Chr11:18428648..18428651 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.835-8A>C single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003825169] Chr11:18407109 [GRCh38]
Chr11:18428656 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.768A>C (p.Val256=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003515501] Chr11:18405506 [GRCh38]
Chr11:18427053 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.593-11A>G single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003516136] Chr11:18403683 [GRCh38]
Chr11:18425230 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.592+17T>G single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003516492] Chr11:18403030 [GRCh38]
Chr11:18424577 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.711-19A>G single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003514265] Chr11:18405430 [GRCh38]
Chr11:18426977 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.933G>A (p.Glu311=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003825167] Chr11:18407215 [GRCh38]
Chr11:18428762 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.941C>T (p.Ala314Val) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003515517] Chr11:18407223 [GRCh38]
Chr11:18428770 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_005566.4(LDHA):c.942C>G (p.Ala314=) single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003876427] Chr11:18407224 [GRCh38]
Chr11:18428771 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.419-16T>G single nucleotide variant Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [RCV003628948] Chr11:18402824 [GRCh38]
Chr11:18424371 [GRCh37]
Chr11:11p15.1		 likely benign
NM_005566.4(LDHA):c.*41C>T single nucleotide variant LDHA-related condition [RCV003909664] Chr11:18407322 [GRCh38]
Chr11:18428869 [GRCh37]
Chr11:11p15.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3897
Count of miRNA genes:1017
Interacting mature miRNAs:1224
Transcripts:ENST00000227157, ENST00000375710, ENST00000379412, ENST00000396222, ENST00000422447, ENST00000430553, ENST00000460405, ENST00000469976, ENST00000478970, ENST00000486690, ENST00000494573, ENST00000495052, ENST00000535451, ENST00000536528, ENST00000537296, ENST00000538451, ENST00000539814, ENST00000540430, ENST00000541097, ENST00000542179, ENST00000543445, ENST00000543695, ENST00000545215, ENST00000545467
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D11S4625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,429,094 - 18,429,218UniSTSGRCh37
Build 361118,385,670 - 18,385,794RGDNCBI36
Celera1118,564,024 - 18,564,148RGD
Cytogenetic Map11p15.4UniSTS
HuRef1118,114,310 - 18,114,434UniSTS
GeneMap99-G3 RH Map11800.0UniSTS
RH93049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,429,490 - 18,429,678UniSTSGRCh37
Build 361118,386,066 - 18,386,254RGDNCBI36
Celera1118,564,420 - 18,564,608RGD
Cytogenetic Map11p15.4UniSTS
HuRef1118,114,706 - 18,114,894UniSTS
GeneMap99-GB4 RH Map1171.39UniSTS
GDB:197849  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,428,696 - 18,429,218UniSTSGRCh37
GRCh37914,920,945 - 14,921,467UniSTSGRCh37
Build 36914,910,945 - 14,911,467RGDNCBI36
Celera1118,563,626 - 18,564,148UniSTS
Celera914,854,453 - 14,854,975RGD
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map11p15.4UniSTS
HuRef1118,113,912 - 18,114,434UniSTS
HuRef914,884,199 - 14,884,721UniSTS
GDB:212868  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,426,847 - 18,427,146UniSTSGRCh37
Build 361118,383,423 - 18,383,722RGDNCBI36
Celera1118,561,775 - 18,562,074RGD
Cytogenetic Map11p15.4UniSTS
HuRef1118,112,056 - 18,112,355UniSTS
LDHA  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371118,428,791 - 18,429,195UniSTSGRCh37
GRCh37914,920,968 - 14,921,372UniSTSGRCh37
Build 36914,910,968 - 14,911,372RGDNCBI36
Celera914,854,476 - 14,854,880RGD
Celera1118,563,721 - 18,564,125UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map9p22.3UniSTS
HuRef914,884,222 - 14,884,626UniSTS
HuRef1118,114,007 - 18,114,411UniSTS
GeneMap99-GB4 RH Map1165.45UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 15 64 6 5 378 5 130 45 16 56 50 40 3 1 23 88
Medium 2424 2908 1720 619 1572 460 4227 2133 3697 363 1410 1573 172 1181 2700 6 2
Low 19 1 19 21
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001165414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001165415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001165416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_028500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC084117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY423727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG424022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG760757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM995301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU507758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD243986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA609380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB502157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC392310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC396757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X03077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000227157   ⟹   ENSP00000227157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,394,586 - 18,408,218 (+)Ensembl
RefSeq Acc Id: ENST00000375710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,399,726 - 18,407,584 (+)Ensembl
RefSeq Acc Id: ENST00000379412   ⟹   ENSP00000368722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,396,278 - 18,407,847 (+)Ensembl
RefSeq Acc Id: ENST00000396222   ⟹   ENSP00000379524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,394,562 - 18,408,218 (+)Ensembl
RefSeq Acc Id: ENST00000422447   ⟹   ENSP00000395337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,394,563 - 18,408,425 (+)Ensembl
RefSeq Acc Id: ENST00000430553   ⟹   ENSP00000406172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,394,562 - 18,407,667 (+)Ensembl
RefSeq Acc Id: ENST00000460405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,398,866 - 18,403,784 (+)Ensembl
RefSeq Acc Id: ENST00000469976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,394,561 - 18,397,398 (+)Ensembl
RefSeq Acc Id: ENST00000478970   ⟹   ENSP00000441241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,394,612 - 18,401,025 (+)Ensembl
RefSeq Acc Id: ENST00000486690   ⟹   ENSP00000441699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,396,818 - 18,405,495 (+)Ensembl
RefSeq Acc Id: ENST00000494573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,394,563 - 18,400,360 (+)Ensembl
RefSeq Acc Id: ENST00000495052   ⟹   ENSP00000446415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,394,704 - 18,400,936 (+)Ensembl
RefSeq Acc Id: ENST00000535451   ⟹   ENSP00000444292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,394,563 - 18,399,521 (+)Ensembl
RefSeq Acc Id: ENST00000536528   ⟹   ENSP00000441058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,394,563 - 18,403,811 (+)Ensembl
RefSeq Acc Id: ENST00000537296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,398,630 - 18,405,574 (+)Ensembl
RefSeq Acc Id: ENST00000538451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,402,535 - 18,407,740 (+)Ensembl
RefSeq Acc Id: ENST00000539814   ⟹   ENSP00000442979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,394,563 - 18,400,934 (+)Ensembl
RefSeq Acc Id: ENST00000540430   ⟹   ENSP00000445175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,396,266 - 18,408,218 (+)Ensembl
RefSeq Acc Id: ENST00000541097   ⟹   ENSP00000443362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,394,563 - 18,407,158 (+)Ensembl
RefSeq Acc Id: ENST00000542179   ⟹   ENSP00000445331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,396,554 - 18,407,281 (+)Ensembl
RefSeq Acc Id: ENST00000543445   ⟹   ENSP00000440161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,394,560 - 18,402,891 (+)Ensembl
RefSeq Acc Id: ENST00000543695   ⟹   ENSP00000440368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,394,563 - 18,403,759 (+)Ensembl
RefSeq Acc Id: ENST00000545215   ⟹   ENSP00000442637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,394,563 - 18,407,642 (+)Ensembl
RefSeq Acc Id: ENST00000545467   ⟹   ENSP00000443545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,394,562 - 18,400,872 (+)Ensembl
RefSeq Acc Id: ENST00000625635   ⟹   ENSP00000486249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1118,396,843 - 18,400,935 (+)Ensembl
RefSeq Acc Id: NM_001135239   ⟹   NP_001128711
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,394,563 - 18,408,425 (+)NCBI
GRCh371118,415,936 - 18,429,765 (+)ENTREZGENE
HuRef1118,101,143 - 18,114,981 (+)ENTREZGENE
CHM1_11118,415,425 - 18,429,229 (+)NCBI
T2T-CHM13v2.01118,492,694 - 18,506,551 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001165414   ⟹   NP_001158886
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,396,351 - 18,408,425 (+)NCBI
GRCh371118,415,936 - 18,429,765 (+)ENTREZGENE
HuRef1118,101,143 - 18,114,981 (+)ENTREZGENE
CHM1_11118,417,302 - 18,429,229 (+)NCBI
T2T-CHM13v2.01118,494,482 - 18,506,551 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001165415   ⟹   NP_001158887
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,394,563 - 18,408,215 (+)NCBI
GRCh371118,415,936 - 18,429,765 (+)ENTREZGENE
HuRef1118,101,143 - 18,114,981 (+)ENTREZGENE
CHM1_11118,415,425 - 18,429,229 (+)NCBI
T2T-CHM13v2.01118,492,694 - 18,506,341 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001165416   ⟹   NP_001158888
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,394,563 - 18,408,425 (+)NCBI
GRCh371118,415,936 - 18,429,765 (+)ENTREZGENE
HuRef1118,101,143 - 18,114,981 (+)ENTREZGENE
CHM1_11118,415,425 - 18,429,229 (+)NCBI
T2T-CHM13v2.01118,492,694 - 18,506,551 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005566   ⟹   NP_005557
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,394,563 - 18,408,425 (+)NCBI
GRCh371118,415,936 - 18,429,765 (+)ENTREZGENE
Build 361118,372,687 - 18,385,969 (+)NCBI Archive
HuRef1118,101,143 - 18,114,981 (+)ENTREZGENE
CHM1_11118,415,425 - 18,429,229 (+)NCBI
T2T-CHM13v2.01118,492,694 - 18,506,551 (+)NCBI
Sequence:
RefSeq Acc Id: NR_028500
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,394,563 - 18,408,425 (+)NCBI
GRCh371118,415,936 - 18,429,765 (+)ENTREZGENE
HuRef1118,101,143 - 18,114,981 (+)ENTREZGENE
CHM1_11118,415,425 - 18,429,229 (+)NCBI
T2T-CHM13v2.01118,492,694 - 18,506,551 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001128711 (Get FASTA)   NCBI Sequence Viewer  
  NP_001158886 (Get FASTA)   NCBI Sequence Viewer  
  NP_001158887 (Get FASTA)   NCBI Sequence Viewer  
  NP_001158888 (Get FASTA)   NCBI Sequence Viewer  
  NP_005557 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH67223 (Get FASTA)   NCBI Sequence Viewer  
  AAS00490 (Get FASTA)   NCBI Sequence Viewer  
  ACJ13686 (Get FASTA)   NCBI Sequence Viewer  
  BAC85389 (Get FASTA)   NCBI Sequence Viewer  
  BAD96798 (Get FASTA)   NCBI Sequence Viewer  
  BAG58843 (Get FASTA)   NCBI Sequence Viewer  
  BAG59264 (Get FASTA)   NCBI Sequence Viewer  
  BAH12879 (Get FASTA)   NCBI Sequence Viewer  
  CAA26088 (Get FASTA)   NCBI Sequence Viewer  
  CAA26879 (Get FASTA)   NCBI Sequence Viewer  
  CAG33056 (Get FASTA)   NCBI Sequence Viewer  
  CAG46515 (Get FASTA)   NCBI Sequence Viewer  
  EAW68395 (Get FASTA)   NCBI Sequence Viewer  
  EAW68396 (Get FASTA)   NCBI Sequence Viewer  
  EAW68397 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000227157
  ENSP00000227157.4
  ENSP00000368722
  ENSP00000368722.6
  ENSP00000379524
  ENSP00000379524.2
  ENSP00000395337
  ENSP00000395337.3
  ENSP00000406172
  ENSP00000406172.2
  ENSP00000440161.1
  ENSP00000440368.1
  ENSP00000441058.1
  ENSP00000441241.1
  ENSP00000441699.1
  ENSP00000442637.1
  ENSP00000442979.1
  ENSP00000443362.1
  ENSP00000443545.1
  ENSP00000444292.1
  ENSP00000445331.1
  ENSP00000446415.2
  ENSP00000499898.1
  ENSP00000499977.1
  ENSP00000500168.1
  ENSP00000500284.1
  ENSP00000500354.1
  ENSP00000500603.1
  ENSP00000500953.1
GenBank Protein P00338 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_005557   ⟸   NM_005566
- Peptide Label: isoform 1
- UniProtKB: Q9UDE8 (UniProtKB/Swiss-Prot),   Q6ZNV1 (UniProtKB/Swiss-Prot),   Q6IBM7 (UniProtKB/Swiss-Prot),   Q53G53 (UniProtKB/Swiss-Prot),   F8W819 (UniProtKB/Swiss-Prot),   D3DQY3 (UniProtKB/Swiss-Prot),   B7Z5E3 (UniProtKB/Swiss-Prot),   B4DKQ2 (UniProtKB/Swiss-Prot),   Q9UDE9 (UniProtKB/Swiss-Prot),   P00338 (UniProtKB/Swiss-Prot),   V9HWB9 (UniProtKB/TrEMBL),   B4DJI1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001158888   ⟸   NM_001165416
- Peptide Label: isoform 5
- UniProtKB: P00338 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001158887   ⟸   NM_001165415
- Peptide Label: isoform 4
- UniProtKB: P00338 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001128711   ⟸   NM_001135239
- Peptide Label: isoform 2
- UniProtKB: B4DJI1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001158886   ⟸   NM_001165414
- Peptide Label: isoform 3
- UniProtKB: B4DJI1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000227157   ⟸   ENST00000227157
RefSeq Acc Id: ENSP00000443362   ⟸   ENST00000541097
RefSeq Acc Id: ENSP00000445331   ⟸   ENST00000542179
RefSeq Acc Id: ENSP00000441241   ⟸   ENST00000478970
RefSeq Acc Id: ENSP00000440368   ⟸   ENST00000543695
RefSeq Acc Id: ENSP00000440161   ⟸   ENST00000543445
RefSeq Acc Id: ENSP00000442637   ⟸   ENST00000545215
RefSeq Acc Id: ENSP00000443545   ⟸   ENST00000545467
RefSeq Acc Id: ENSP00000486249   ⟸   ENST00000625635
RefSeq Acc Id: ENSP00000446415   ⟸   ENST00000495052
RefSeq Acc Id: ENSP00000444292   ⟸   ENST00000535451
RefSeq Acc Id: ENSP00000368722   ⟸   ENST00000379412
RefSeq Acc Id: ENSP00000441058   ⟸   ENST00000536528
RefSeq Acc Id: ENSP00000406172   ⟸   ENST00000430553
RefSeq Acc Id: ENSP00000442979   ⟸   ENST00000539814
RefSeq Acc Id: ENSP00000441699   ⟸   ENST00000486690
RefSeq Acc Id: ENSP00000379524   ⟸   ENST00000396222
RefSeq Acc Id: ENSP00000445175   ⟸   ENST00000540430
RefSeq Acc Id: ENSP00000395337   ⟸   ENST00000422447
Protein Domains
Lactate/malate dehydrogenase C-terminal   Lactate/malate dehydrogenase N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P00338-F1-model_v2 AlphaFold P00338 1-332 view protein structure

Promoters
RGD ID:6789050
Promoter ID:HG_KWN:12452
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001135239,   NM_001165415,   NM_001165416,   NR_028500,   OTTHUMT00000258172,   OTTHUMT00000258175,   OTTHUMT00000258177,   OTTHUMT00000258178,   OTTHUMT00000258180,   UC009YHN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361118,372,506 - 18,373,006 (+)MPROMDB
RGD ID:6851406
Promoter ID:EP73503
Type:single initiation site
Name:HS_LDHA
Description:Lactate dehydrogenase A.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361118,372,686 - 18,372,746EPD
RGD ID:6789048
Promoter ID:HG_KWN:12453
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001165414,   OTTHUMT00000258176
Position:
Human AssemblyChrPosition (strand)Source
Build 361118,373,974 - 18,374,474 (+)MPROMDB
RGD ID:6789051
Promoter ID:HG_KWN:12454
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000258179
Position:
Human AssemblyChrPosition (strand)Source
Build 361118,376,141 - 18,377,412 (+)MPROMDB
RGD ID:7219795
Promoter ID:EPDNEW_H15643
Type:initiation region
Name:LDHA_1
Description:lactate dehydrogenase A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381118,394,563 - 18,394,623EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6535 AgrOrtholog
COSMIC LDHA COSMIC
Ensembl Genes ENSG00000134333 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000288299 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000227157 ENTREZGENE
  ENST00000227157.8 UniProtKB/Swiss-Prot
  ENST00000379412 ENTREZGENE
  ENST00000379412.9 UniProtKB/Swiss-Prot
  ENST00000396222 ENTREZGENE
  ENST00000396222.6 UniProtKB/Swiss-Prot
  ENST00000422447 ENTREZGENE
  ENST00000422447.8 UniProtKB/Swiss-Prot
  ENST00000430553 ENTREZGENE
  ENST00000430553.6 UniProtKB/Swiss-Prot
  ENST00000478970.6 UniProtKB/TrEMBL
  ENST00000486690.6 UniProtKB/TrEMBL
  ENST00000495052.5 UniProtKB/TrEMBL
  ENST00000535451.5 UniProtKB/TrEMBL
  ENST00000536528.5 UniProtKB/TrEMBL
  ENST00000539814.5 UniProtKB/TrEMBL
  ENST00000541097.5 UniProtKB/TrEMBL
  ENST00000542179.1 UniProtKB/Swiss-Prot
  ENST00000543445.5 UniProtKB/TrEMBL
  ENST00000543695.5 UniProtKB/TrEMBL
  ENST00000545215.5 UniProtKB/TrEMBL
  ENST00000545467.5 UniProtKB/TrEMBL
  ENST00000671981.1 UniProtKB/Swiss-Prot
  ENST00000672078.1 UniProtKB/Swiss-Prot
  ENST00000672405.1 UniProtKB/Swiss-Prot
  ENST00000672996.1 UniProtKB/Swiss-Prot
  ENST00000673007.1 UniProtKB/Swiss-Prot
  ENST00000673083.1 UniProtKB/Swiss-Prot
  ENST00000673204.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.90.110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000134333 GTEx
  ENSG00000288299 GTEx
HGNC ID HGNC:6535 ENTREZGENE
Human Proteome Map LDHA Human Proteome Map
InterPro L-lactate/malate_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L-lactate_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L-lactate_DH_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lactate/malate_DH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lactate/malate_DH_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lactate_DH/Glyco_Ohase_4_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3939 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3939 ENTREZGENE
OMIM 150000 OMIM
PANTHER L-2-HYDROXYCARBOXYLATE DEHYDROGENASE (NAD(P)(+)) UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L-LACTATE DEHYDROGENASE A CHAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ldh_1_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ldh_1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30319 PharmGKB
PIRSF Lac_mal_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS LLDHDRGNASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE L_LDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROKAR_LIPOPROTEIN UniProtKB/TrEMBL
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56327 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DJI1 ENTREZGENE, UniProtKB/TrEMBL
  B4DKQ2 ENTREZGENE
  B7Z5E3 ENTREZGENE
  D3DQY3 ENTREZGENE
  F5GWW2_HUMAN UniProtKB/TrEMBL
  F5GXC7_HUMAN UniProtKB/TrEMBL
  F5GXH2_HUMAN UniProtKB/TrEMBL
  F5GXU1_HUMAN UniProtKB/TrEMBL
  F5GXY2_HUMAN UniProtKB/TrEMBL
  F5GYU2_HUMAN UniProtKB/TrEMBL
  F5GZQ4_HUMAN UniProtKB/TrEMBL
  F5H5J4_HUMAN UniProtKB/TrEMBL
  F5H6W8_HUMAN UniProtKB/TrEMBL
  F5H8H6_HUMAN UniProtKB/TrEMBL
  F8W819 ENTREZGENE
  LDHA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q53G53 ENTREZGENE
  Q6IBM7 ENTREZGENE
  Q6ZNV1 ENTREZGENE
  Q9UDE8 ENTREZGENE
  Q9UDE9 ENTREZGENE
  V9HWB9 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B4DKQ2 UniProtKB/Swiss-Prot
  B7Z5E3 UniProtKB/Swiss-Prot
  D3DQY3 UniProtKB/Swiss-Prot
  F8W819 UniProtKB/Swiss-Prot
  Q53G53 UniProtKB/Swiss-Prot
  Q6IBM7 UniProtKB/Swiss-Prot
  Q6ZNV1 UniProtKB/Swiss-Prot
  Q9UDE8 UniProtKB/Swiss-Prot
  Q9UDE9 UniProtKB/Swiss-Prot