GK (glycerol kinase) - Rat Genome Database

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Gene: GK (glycerol kinase) Homo sapiens
Analyze
Symbol: GK
Name: glycerol kinase
RGD ID: 1344759
HGNC Page HGNC
Description: Exhibits glycerol kinase activity. Involved in glycerol metabolic process; glycerol-3-phosphate biosynthetic process; and triglyceride metabolic process. Localizes to extracellular exosome. Implicated in glycerol kinase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATP:glycerol 3-phosphotransferase; GK1; GKD; glycerokinase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: GK3P   GK4P   GK6P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX30,653,359 - 30,731,462 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX30,653,359 - 30,731,456 (+)EnsemblGRCh38hg38GRCh38
GRCh38X30,653,348 - 30,731,462 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X30,671,540 - 30,749,579 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X30,581,461 - 30,658,646 (+)NCBINCBI36hg18NCBI36
Build 34X30,431,196 - 30,508,381NCBI
CeleraX34,794,970 - 34,872,746 (+)NCBI
Cytogenetic MapXp21.2NCBI
HuRefX28,409,908 - 28,487,802 (+)NCBIHuRef
CHM1_1X30,702,368 - 30,780,409 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-noradrenaline  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)propanoic acid  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
8-Br-cAMP  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP)
alachlor  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
carbon nanotube  (ISO)
chloroacetic acid  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
ciglitazone  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
clorgyline  (EXP)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP)
coumarin  (ISO)
crocidolite asbestos  (EXP,ISO)
cyclosporin A  (EXP,ISO)
dexamethasone  (EXP,ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dobutamine  (ISO)
dorsomorphin  (EXP)
fenofibrate  (EXP,ISO)
finasteride  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
Ganoderic acid A  (ISO)
glafenine  (ISO)
glycerol  (ISO)
glycerol 1-phosphate  (ISO)
hydroquinone  (EXP)
indometacin  (EXP,ISO)
irinotecan  (EXP)
isoprenaline  (ISO)
isotretinoin  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
lovastatin  (ISO)
malathion  (ISO)
methapyrilene  (EXP,ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
monosodium L-glutamate  (ISO)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nimesulide  (ISO)
obeticholic acid  (EXP)
ochratoxin A  (ISO)
paracetamol  (EXP,ISO)
perfluorododecanoic acid  (EXP)
perfluorohexanesulfonic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenformin  (ISO)
phenobarbital  (EXP,ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
progesterone  (EXP)
propamocarb  (ISO)
propranolol  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
streptozocin  (ISO)
sulindac sulfide  (EXP)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:2081587   PMID:2159212   PMID:2982325   PMID:7987308   PMID:8401584   PMID:8499898   PMID:8499912   PMID:8651297   PMID:8884278   PMID:8944226   PMID:10736265   PMID:10737976  
PMID:10851254   PMID:12477932   PMID:12636049   PMID:14654354   PMID:15489334   PMID:15845384   PMID:16549535   PMID:18660489   PMID:19056867   PMID:20110216   PMID:20301604   PMID:21873635  
PMID:21988832   PMID:23376485   PMID:25609649   PMID:26186194   PMID:26344197   PMID:27087023   PMID:28514442   PMID:29568061   PMID:31813231   PMID:32877691  


Genomics

Comparative Map Data
GK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX30,653,359 - 30,731,462 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX30,653,359 - 30,731,456 (+)EnsemblGRCh38hg38GRCh38
GRCh38X30,653,348 - 30,731,462 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X30,671,540 - 30,749,579 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X30,581,461 - 30,658,646 (+)NCBINCBI36hg18NCBI36
Build 34X30,431,196 - 30,508,381NCBI
CeleraX34,794,970 - 34,872,746 (+)NCBI
Cytogenetic MapXp21.2NCBI
HuRefX28,409,908 - 28,487,802 (+)NCBIHuRef
CHM1_1X30,702,368 - 30,780,409 (+)NCBICHM1_1
Gk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X84,745,543 - 84,820,425 (-)NCBIGRCm39mm39
GRCm39 EnsemblX84,745,543 - 84,820,425 (-)Ensembl
GRCm38X85,701,937 - 85,776,819 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX85,701,937 - 85,776,819 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X82,947,276 - 83,022,158 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X81,954,656 - 82,029,402 (-)NCBImm8
CeleraX76,897,628 - 76,973,181 (-)NCBICelera
Cytogenetic MapXC1NCBI
cM MapX39.32NCBI
Gk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X50,162,089 - 50,238,707 (-)NCBI
Rnor_6.0 EnsemblX54,227,397 - 54,303,864 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X54,227,291 - 54,303,897 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X54,426,876 - 54,503,386 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X72,416,872 - 72,493,296 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X72,491,081 - 72,566,588 (-)NCBI
CeleraX50,789,241 - 50,865,448 (-)NCBICelera
Cytogenetic MapXq21NCBI
Gk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955531106,761 - 183,347 (-)NCBIChiLan1.0ChiLan1.0
GK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X30,806,950 - 30,876,075 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX30,806,950 - 30,877,131 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X23,250,290 - 23,327,373 (+)NCBIMhudiblu_PPA_v0panPan3
GK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X25,748,060 - 25,834,462 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX30,724,675 - 30,810,642 (+)NCBI
ROS_Cfam_1.0X25,779,221 - 25,865,989 (+)NCBI
UMICH_Zoey_3.1X25,824,618 - 25,911,312 (+)NCBI
UNSW_CanFamBas_1.0X25,818,511 - 25,904,987 (+)NCBI
UU_Cfam_GSD_1.0X25,914,905 - 26,001,706 (+)NCBI
Gk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X18,614,780 - 18,776,739 (+)NCBI
SpeTri2.0NW_0049365536,707,148 - 6,787,245 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X26,470,422 - 26,558,892 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X28,788,865 - 28,872,354 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GK
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X29,043,390 - 29,119,516 (+)NCBI
ChlSab1.1 EnsemblX29,043,571 - 29,118,646 (+)Ensembl
Vero_WHO_p1.0NW_02366605631,026,654 - 31,105,211 (+)NCBI
Gk
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476225,268,398 - 25,357,165 (-)NCBI

Position Markers
RH36397  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X30,727,914 - 30,728,019UniSTSGRCh37
Build 36X30,637,835 - 30,637,940RGDNCBI36
CeleraX34,851,348 - 34,851,453RGD
Cytogenetic MapXp21.3UniSTS
GeneMap99-GB4 RH MapX107.78UniSTS
NCBI RH MapX43.0UniSTS
RH92654  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X30,747,279 - 30,747,360UniSTSGRCh37
GRCh37X101,033,353 - 101,033,434UniSTSGRCh37
Build 36X100,920,009 - 100,920,090RGDNCBI36
CeleraX101,553,948 - 101,554,029RGD
CeleraX34,871,300 - 34,871,381UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp21.3UniSTS
HuRefX90,841,028 - 90,841,109UniSTS
RH93765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X30,748,330 - 30,748,477UniSTSGRCh37
Build 36X30,658,251 - 30,658,398RGDNCBI36
CeleraX34,872,351 - 34,872,498RGD
Cytogenetic MapXp21.3UniSTS
HuRefX90,839,911 - 90,840,058UniSTS
HuRefX28,486,553 - 28,486,700UniSTS
GeneMap99-GB4 RH MapX107.78UniSTS
DXS1128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X30,713,909 - 30,714,595UniSTSGRCh37
Build 36X30,623,830 - 30,624,516RGDNCBI36
CeleraX34,837,342 - 34,838,028RGD
Cytogenetic MapXp21.3UniSTS
HuRefX28,452,349 - 28,453,035UniSTS
DXS1029  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X30,679,267 - 30,679,499UniSTSGRCh37
Build 36X30,589,188 - 30,589,420RGDNCBI36
CeleraX34,802,760 - 34,802,992RGD
Cytogenetic MapXp21.3UniSTS
HuRefX28,417,695 - 28,417,927UniSTS
GDB:655772  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp21.3UniSTS
RH38757  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp21.3UniSTS
RH16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp21.3UniSTS
GeneMap99-GB4 RH MapX113.43UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3906
Count of miRNA genes:1118
Interacting mature miRNAs:1371
Transcripts:ENST00000378938, ENST00000378941, ENST00000378943, ENST00000378945, ENST00000378946, ENST00000425166, ENST00000427190, ENST00000471362, ENST00000479048, ENST00000481024, ENST00000487652, ENST00000488296
Prediction methods:Microtar, Miranda, Pita, 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.


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
Medium 193 646 364 352 1069 332 135 17 58 214 91 559 22 17 17
Low 2238 2283 1361 272 882 133 4055 1952 3610 204 1363 1051 151 1 1187 2606 4 2
Below cutoff 4 62 1 166 226 65 1 5 3 1 165 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001205019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA689298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC117404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW300142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG400692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM906503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD369459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB936825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB950504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC994234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HD007914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L13942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L13943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X68285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X69886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000378938   ⟹   ENSP00000368221
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX30,720,618 - 30,721,191 (+)Ensembl
RefSeq Acc Id: ENST00000378941   ⟹   ENSP00000368224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX30,653,538 - 30,678,114 (+)Ensembl
RefSeq Acc Id: ENST00000378943   ⟹   ENSP00000368226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX30,653,359 - 30,730,608 (+)Ensembl
RefSeq Acc Id: ENST00000378945   ⟹   ENSP00000368228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX30,653,478 - 30,729,170 (+)Ensembl
RefSeq Acc Id: ENST00000378946   ⟹   ENSP00000368229
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX30,653,359 - 30,730,608 (+)Ensembl
RefSeq Acc Id: ENST00000425166   ⟹   ENSP00000404682
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX30,687,523 - 30,696,103 (+)Ensembl
RefSeq Acc Id: ENST00000427190   ⟹   ENSP00000401720
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX30,653,359 - 30,731,456 (+)Ensembl
RefSeq Acc Id: ENST00000471362   ⟹   ENSP00000417942
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX30,653,507 - 30,696,062 (+)Ensembl
RefSeq Acc Id: ENST00000479048   ⟹   ENSP00000420676
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX30,653,496 - 30,696,086 (+)Ensembl
RefSeq Acc Id: ENST00000481024   ⟹   ENSP00000418873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX30,653,489 - 30,729,249 (+)Ensembl
RefSeq Acc Id: ENST00000487652   ⟹   ENSP00000419332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX30,653,500 - 30,696,662 (+)Ensembl
RefSeq Acc Id: ENST00000488296   ⟹   ENSP00000419771
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX30,689,472 - 30,700,885 (+)Ensembl
RefSeq Acc Id: NM_000167   ⟹   NP_000158
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,653,423 - 30,731,462 (+)NCBI
GRCh37X30,671,476 - 30,749,579 (+)ENTREZGENE
Build 36X30,581,461 - 30,658,646 (+)NCBI Archive
HuRefX28,409,908 - 28,487,802 (+)ENTREZGENE
CHM1_1X30,702,368 - 30,780,409 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001128127   ⟹   NP_001121599
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,653,423 - 30,731,462 (+)NCBI
GRCh37X30,671,476 - 30,749,579 (+)ENTREZGENE
HuRefX28,409,908 - 28,487,802 (+)ENTREZGENE
CHM1_1X30,702,368 - 30,780,409 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001205019   ⟹   NP_001191948
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,653,423 - 30,731,462 (+)NCBI
GRCh37X30,671,476 - 30,749,579 (+)NCBI
HuRefX28,409,908 - 28,487,802 (+)ENTREZGENE
CHM1_1X30,702,368 - 30,780,409 (+)NCBI
Sequence:
RefSeq Acc Id: NM_203391   ⟹   NP_976325
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,653,423 - 30,731,462 (+)NCBI
GRCh37X30,671,476 - 30,749,579 (+)NCBI
Build 36X30,581,461 - 30,658,646 (+)NCBI Archive
HuRefX28,409,908 - 28,487,802 (+)ENTREZGENE
CHM1_1X30,702,368 - 30,780,409 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274488   ⟹   XP_005274545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,653,408 - 30,730,608 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724483   ⟹   XP_006724546
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,653,406 - 30,730,608 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724484   ⟹   XP_006724547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,653,407 - 30,730,608 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724485   ⟹   XP_006724548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,653,407 - 30,730,608 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724486   ⟹   XP_006724549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,653,348 - 30,730,608 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545491   ⟹   XP_011543793
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,653,405 - 30,730,608 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545492   ⟹   XP_011543794
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,653,406 - 30,730,608 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545493   ⟹   XP_011543795
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,670,512 - 30,730,608 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545494   ⟹   XP_011543796
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,653,597 - 30,730,608 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029409   ⟹   XP_016884898
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,653,489 - 30,730,608 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029410   ⟹   XP_016884899
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,653,364 - 30,730,608 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029411   ⟹   XP_016884900
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,653,405 - 30,730,608 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029412   ⟹   XP_016884901
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,653,411 - 30,730,608 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000158 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121599 (Get FASTA)   NCBI Sequence Viewer  
  NP_001191948 (Get FASTA)   NCBI Sequence Viewer  
  NP_976325 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274545 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724546 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724547 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724548 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724549 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543793 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543794 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543795 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543796 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884898 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884899 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884900 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884901 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52576 (Get FASTA)   NCBI Sequence Viewer  
  AAH37549 (Get FASTA)   NCBI Sequence Viewer  
  AAH42421 (Get FASTA)   NCBI Sequence Viewer  
  AAH71595 (Get FASTA)   NCBI Sequence Viewer  
  BAG36030 (Get FASTA)   NCBI Sequence Viewer  
  BAG57585 (Get FASTA)   NCBI Sequence Viewer  
  BAG58015 (Get FASTA)   NCBI Sequence Viewer  
  CAA48346 (Get FASTA)   NCBI Sequence Viewer  
  CAA49512 (Get FASTA)   NCBI Sequence Viewer  
  CAB54857 (Get FASTA)   NCBI Sequence Viewer  
  CAB54858 (Get FASTA)   NCBI Sequence Viewer  
  CAB54859 (Get FASTA)   NCBI Sequence Viewer  
  CBG03251 (Get FASTA)   NCBI Sequence Viewer  
  CBG09940 (Get FASTA)   NCBI Sequence Viewer  
  CBV16771 (Get FASTA)   NCBI Sequence Viewer  
  CBV23462 (Get FASTA)   NCBI Sequence Viewer  
  EAW99053 (Get FASTA)   NCBI Sequence Viewer  
  EAW99054 (Get FASTA)   NCBI Sequence Viewer  
  EAW99055 (Get FASTA)   NCBI Sequence Viewer  
  EAW99056 (Get FASTA)   NCBI Sequence Viewer  
  P32189 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001191948   ⟸   NM_001205019
- Peptide Label: isoform d
- UniProtKB: P32189 (UniProtKB/Swiss-Prot),   B4DH54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_976325   ⟸   NM_203391
- Peptide Label: isoform a
- UniProtKB: P32189 (UniProtKB/Swiss-Prot),   B4DH54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001121599   ⟸   NM_001128127
- Peptide Label: isoform c
- UniProtKB: P32189 (UniProtKB/Swiss-Prot),   B4DH54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000158   ⟸   NM_000167
- Peptide Label: isoform b
- UniProtKB: P32189 (UniProtKB/Swiss-Prot),   B4DH54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274545   ⟸   XM_005274488
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_006724546   ⟸   XM_006724483
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006724547   ⟸   XM_006724484
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006724548   ⟸   XM_006724485
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_006724549   ⟸   XM_006724486
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011543793   ⟸   XM_011545491
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011543794   ⟸   XM_011545492
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011543796   ⟸   XM_011545494
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011543795   ⟸   XM_011545493
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016884899   ⟸   XM_017029410
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016884900   ⟸   XM_017029411
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016884901   ⟸   XM_017029412
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016884898   ⟸   XM_017029409
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000404682   ⟸   ENST00000425166
RefSeq Acc Id: ENSP00000420676   ⟸   ENST00000479048
RefSeq Acc Id: ENSP00000401720   ⟸   ENST00000427190
RefSeq Acc Id: ENSP00000418873   ⟸   ENST00000481024
RefSeq Acc Id: ENSP00000368221   ⟸   ENST00000378938
RefSeq Acc Id: ENSP00000368228   ⟸   ENST00000378945
RefSeq Acc Id: ENSP00000368229   ⟸   ENST00000378946
RefSeq Acc Id: ENSP00000368224   ⟸   ENST00000378941
RefSeq Acc Id: ENSP00000368226   ⟸   ENST00000378943
RefSeq Acc Id: ENSP00000417942   ⟸   ENST00000471362
RefSeq Acc Id: ENSP00000419332   ⟸   ENST00000487652
RefSeq Acc Id: ENSP00000419771   ⟸   ENST00000488296
Protein Domains
FGGY_C   FGGY_N

Promoters
RGD ID:6808773
Promoter ID:HG_KWN:66337
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000378941,   ENST00000378948,   ENST00000397531,   NM_000167,   NM_001128127,   NM_203391,   UC010NGK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X30,580,906 - 30,581,842 (+)MPROMDB
RGD ID:13604986
Promoter ID:EPDNEW_H28678
Type:initiation region
Name:GK_1
Description:glycerol kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X30,653,425 - 30,653,485EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000023.11:g.(30720096_30720620)_(30720742_30720851)del deletion Deficiency of glycerol kinase [RCV000011689] ChrX:30720620..30720742 [GRCh38]
ChrX:30738737..30738859 [GRCh37]
ChrX:Xp21.3-p21.2
pathogenic
NC_000023.11:g.(30700906_30707555)_(30728743_?)del deletion Deficiency of glycerol kinase [RCV000011691] ChrX:30707555..30728743 [GRCh38]
ChrX:Xp21.3-p21.2
pathogenic|likely pathogenic
NM_001128127.2(GK):c.42765-52ins316 insertion Deficiency of glycerol kinase [RCV000011694] ChrX:Xp21.3-p21.2 pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_000167.5(GK):c.1319A>T (p.Asp440Val) single nucleotide variant Deficiency of glycerol kinase [RCV000011690] ChrX:30720721 [GRCh38]
ChrX:30738838 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000167.5(GK):c.1237C>T (p.Arg413Ter) single nucleotide variant Deficiency of glycerol kinase [RCV000011692] ChrX:30720639 [GRCh38]
ChrX:30738756 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000167.5(GK):c.1507T>C (p.Trp503Arg) single nucleotide variant Deficiency of glycerol kinase [RCV000011693] ChrX:30724124 [GRCh38]
ChrX:30742241 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000167.5(GK):c.862A>G (p.Asn288Asp) single nucleotide variant Deficiency of glycerol kinase [RCV000011695] ChrX:30707584 [GRCh38]
ChrX:30725701 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000167.5(GK):c.553-1G>C single nucleotide variant Deficiency of glycerol kinase [RCV000011688] ChrX:30696041 [GRCh38]
ChrX:30714158 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_001205019.1(GK):c.*2459G>T single nucleotide variant Lung cancer [RCV000102528] ChrX:30731201 [GRCh38]
ChrX:30749318 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.11-11.4(chrX:22420237-38834728)x1 copy number loss See cases [RCV000053063] ChrX:22420237..38834728 [GRCh38]
ChrX:22438354..38693981 [GRCh37]
ChrX:22348275..38578925 [NCBI36]
ChrX:Xp22.11-11.4
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_000167.5(GK):c.1058G>A (p.Gly353Asp) single nucleotide variant not provided [RCV000078257] ChrX:30719440 [GRCh38]
ChrX:30737557 [GRCh37]
ChrX:Xp21.2
uncertain significance
NM_000167.5(GK):c.1339+20T>C single nucleotide variant not specified [RCV000078258] ChrX:30720761 [GRCh38]
ChrX:30738878 [GRCh37]
ChrX:Xp21.2
benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp21.2(chrX:30654318-30840990)x3 copy number gain See cases [RCV000134072] ChrX:30654318..30840990 [GRCh38]
ChrX:30672435..30859107 [GRCh37]
ChrX:30582356..30769028 [NCBI36]
ChrX:Xp21.2
uncertain significance
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp21.2-21.1(chrX:30093911-34060667)x0 copy number loss See cases [RCV000136548] ChrX:30093911..34060667 [GRCh38]
ChrX:30112028..34078784 [GRCh37]
ChrX:30021949..33988705 [NCBI36]
ChrX:Xp21.2-21.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp21.3-11.4(chrX:28234352-37850186)x3 copy number gain See cases [RCV000138078] ChrX:28234352..37850186 [GRCh38]
ChrX:28252469..37709439 [GRCh37]
ChrX:28162390..37594383 [NCBI36]
ChrX:Xp21.3-11.4
likely pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp21.3-11.4(chrX:28218244-37855706)x3 copy number gain See cases [RCV000143685] ChrX:28218244..37855706 [GRCh38]
ChrX:28236361..37714959 [GRCh37]
ChrX:28146282..37599903 [NCBI36]
ChrX:Xp21.3-11.4
uncertain significance
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_000167.5(GK):c.889_890insC (p.Asp297fs) insertion not provided [RCV000489987] ChrX:30708066..30708067 [GRCh38]
ChrX:30726183..30726184 [GRCh37]
ChrX:Xp21.2
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000167.5(GK):c.514C>T (p.Arg172Ter) single nucleotide variant not provided [RCV000433135] ChrX:30694499 [GRCh38]
ChrX:30712616 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_000167.5(GK):c.259+2T>C single nucleotide variant not provided [RCV000440001] ChrX:30668120 [GRCh38]
ChrX:30686237 [GRCh37]
ChrX:Xp21.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001205019.1(GK):c.*1A>G single nucleotide variant Global developmental delay [RCV000626784] ChrX:30728743 [GRCh38]
ChrX:30746860 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NC_000023.10:g.(28450110_28771544)_(31838019_32614088)del deletion Congenital adrenal hypoplasia, X-linked [RCV000512729] ChrX:28753427..31819902 [GRCh38]
ChrX:28771544..31838019 [GRCh37]
ChrX:Xp21.3-21.1
pathogenic
NC_000023.10:g.(29976475_30082636)_(31196736_31462831)del deletion Congenital adrenal hypoplasia, X-linked [RCV000513432] ChrX:30064519..31178619 [GRCh38]
ChrX:30082636..31196736 [GRCh37]
ChrX:Xp21.2
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.11-21.1(chrX:24650157-31844543)x2 copy number gain not provided [RCV000684294] ChrX:24650157..31844543 [GRCh37]
ChrX:Xp22.11-21.1
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp21.2(chrX:30535343-30764483)x3 copy number gain not provided [RCV000684302] ChrX:30535343..30764483 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
NM_000167.5(GK):c.1095G>A (p.Ser365=) single nucleotide variant History of neurodevelopmental disorder [RCV000721023]|not provided [RCV000898444] ChrX:30719477 [GRCh38]
ChrX:30737594 [GRCh37]
ChrX:Xp21.2
benign|likely benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_000167.5(GK):c.730-5A>T single nucleotide variant History of neurodevelopmental disorder [RCV000720980]|not provided [RCV000884028] ChrX:30700409 [GRCh38]
ChrX:30718526 [GRCh37]
ChrX:Xp21.2
benign|likely benign
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_001128127.2(GK):c.165G>A (p.Gln55=) single nucleotide variant History of neurodevelopmental disorder [RCV000720929] ChrX:30668024 [GRCh38]
ChrX:30686141 [GRCh37]
ChrX:Xp21.2
benign
NM_000167.5(GK):c.501C>T (p.Ala167=) single nucleotide variant History of neurodevelopmental disorder [RCV000721009]|not provided [RCV000890721] ChrX:30694486 [GRCh38]
ChrX:30712603 [GRCh37]
ChrX:Xp21.2
benign
GRCh37/hg19 Xp21.2(chrX:30452164-30849176)x3 copy number gain not provided [RCV000753458] ChrX:30452164..30849176 [GRCh37]
ChrX:Xp21.2
benign
GRCh37/hg19 Xp21.2(chrX:30506743-30732736)x2 copy number gain not provided [RCV000753459] ChrX:30506743..30732736 [GRCh37]
ChrX:Xp21.2
benign
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000167.5(GK):c.1530A>T (p.Ser510=) single nucleotide variant not provided [RCV000920065] ChrX:30724147 [GRCh38]
ChrX:30742264 [GRCh37]
ChrX:Xp21.2
likely benign
NM_000167.5(GK):c.78+9G>A single nucleotide variant not provided [RCV000905270] ChrX:30653624 [GRCh38]
ChrX:30671741 [GRCh37]
ChrX:Xp21.2
likely benign
NM_000167.5(GK):c.186T>C (p.His62=) single nucleotide variant not provided [RCV000883602] ChrX:30668045 [GRCh38]
ChrX:30686162 [GRCh37]
ChrX:Xp21.2
benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp21.2(chrX:30414004-30747143)x2 copy number gain not provided [RCV000848180] ChrX:30414004..30747143 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
Single allele deletion Chromosome Xp21 deletion syndrome [RCV000845038] ChrX:27346252..33328836 [GRCh37]
ChrX:Xp21.3-21.1
not provided
GRCh37/hg19 Xp22.12-21.1(chrX:20925922-35511818)x1 copy number loss not provided [RCV000847678] ChrX:20925922..35511818 [GRCh37]
ChrX:Xp22.12-21.1
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000167.5(GK):c.372G>A (p.Glu124=) single nucleotide variant not provided [RCV000898279] ChrX:30691157 [GRCh38]
ChrX:30709274 [GRCh37]
ChrX:Xp21.2
benign
NM_000167.5(GK):c.1527G>A (p.Lys509=) single nucleotide variant not provided [RCV000935841] ChrX:30724144 [GRCh38]
ChrX:30742261 [GRCh37]
ChrX:Xp21.2
benign
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NC_000023.10:g.(?_30326313)_(41000684_?)del deletion Ornithine carbamoyltransferase deficiency [RCV001033914] ChrX:30326313..41000684 [GRCh37]
ChrX:Xp21.2-11.4
pathogenic
NM_000167.5(GK):c.385del (p.Arg129fs) deletion not provided [RCV001008190] ChrX:30691167 [GRCh38]
ChrX:30709284 [GRCh37]
ChrX:Xp21.2
likely pathogenic
NM_203391.3(GK):c.553-2A>G single nucleotide variant not provided [RCV001093397] ChrX:30696040 [GRCh38]
ChrX:30714157 [GRCh37]
ChrX:Xp21.2
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.3-21.1(chrX:28309706-31853992)x1 copy number loss not provided [RCV001259445] ChrX:28309706..31853992 [GRCh37]
ChrX:Xp21.3-21.1
pathogenic
NM_001205019.2(GK):c.152+1G>C single nucleotide variant Inborn genetic diseases [RCV001267243] ChrX:30665585 [GRCh38]
ChrX:30683702 [GRCh37]
ChrX:Xp21.2
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001205019.2(GK):c.580G>A (p.Val194Ile) single nucleotide variant not provided [RCV001302265] ChrX:30696069 [GRCh38]
ChrX:30714186 [GRCh37]
ChrX:Xp21.2
uncertain significance
NM_001205019.2(GK):c.106C>T (p.Leu36Phe) single nucleotide variant Deficiency of glycerol kinase [RCV001331039] ChrX:30665538 [GRCh38]
ChrX:30683655 [GRCh37]
ChrX:Xp21.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4289 AgrOrtholog
COSMIC GK COSMIC
Ensembl Genes ENSG00000198814 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000368221 UniProtKB/TrEMBL
  ENSP00000368224 UniProtKB/TrEMBL
  ENSP00000368226 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000368228 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000368229 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000401720 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000404682 UniProtKB/TrEMBL
  ENSP00000417942 UniProtKB/TrEMBL
  ENSP00000418873 UniProtKB/TrEMBL
  ENSP00000419332 UniProtKB/TrEMBL
  ENSP00000419771 UniProtKB/TrEMBL
  ENSP00000420676 UniProtKB/TrEMBL
Ensembl Transcript ENST00000378938 UniProtKB/TrEMBL
  ENST00000378941 UniProtKB/TrEMBL
  ENST00000378943 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000378945 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000378946 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000425166 UniProtKB/TrEMBL
  ENST00000427190 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000471362 UniProtKB/TrEMBL
  ENST00000479048 UniProtKB/TrEMBL
  ENST00000481024 UniProtKB/TrEMBL
  ENST00000487652 UniProtKB/TrEMBL
  ENST00000488296 UniProtKB/TrEMBL
GTEx ENSG00000198814 GTEx
HGNC ID HGNC:4289 ENTREZGENE
Human Proteome Map GK Human Proteome Map
InterPro ATPase_NBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Carb_kinase_FGGY UniProtKB/Swiss-Prot
  Carb_kinase_FGGY_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Carb_kinase_FGGY_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Carb_kinase_FGGY_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GK1-3_metazoa UniProtKB/Swiss-Prot
  Glycerol_kin UniProtKB/Swiss-Prot
KEGG Report hsa:2710 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2710 ENTREZGENE
OMIM 300474 OMIM
  307030 OMIM
Pfam FGGY_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FGGY_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28700 PharmGKB
PIRSF GlpK UniProtKB/Swiss-Prot
PROSITE FGGY_KINASES_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FGGY_KINASES_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53067 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs glycerol_kin UniProtKB/Swiss-Prot
UniProt A0A024RBY6_HUMAN UniProtKB/TrEMBL
  A6NP46_HUMAN UniProtKB/TrEMBL
  B4DH54 ENTREZGENE, UniProtKB/TrEMBL
  F8WBI8_HUMAN UniProtKB/TrEMBL
  F8WC39_HUMAN UniProtKB/TrEMBL
  F8WDA9_HUMAN UniProtKB/TrEMBL
  F8WF44_HUMAN UniProtKB/TrEMBL
  GLPK_HUMAN UniProtKB/Swiss-Prot
  H7BYD2_HUMAN UniProtKB/TrEMBL
  H7C2A0_HUMAN UniProtKB/TrEMBL
  H7C5F6_HUMAN UniProtKB/TrEMBL
  P32189 ENTREZGENE
UniProt Secondary A6NJP5 UniProtKB/Swiss-Prot
  B2R833 UniProtKB/Swiss-Prot
  Q6IQ27 UniProtKB/Swiss-Prot
  Q8IVR5 UniProtKB/Swiss-Prot
  Q9UMP0 UniProtKB/Swiss-Prot
  Q9UMP1 UniProtKB/Swiss-Prot