GOLGA3 (golgin A3) - Rat Genome Database

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Gene: GOLGA3 (golgin A3) Homo sapiens
Analyze
Symbol: GOLGA3
Name: golgin A3
RGD ID: 1313187
HGNC Page HGNC:4426
Description: Enables cadherin binding activity. Located in Golgi membrane; cytosol; and nuclear lumen.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: GCP170; golgi autoantigen, golgin subfamily a, 3; Golgi complex-associated protein of 170 kD; golgi complex-associated protein of 170 kDa; Golgi membrane associated protein; Golgi peripheral membrane protein; Golgin subfamily A member 3; golgin-160; golgin-165; male enhanced antigen-2; MEA-2; SY2/SY10 protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812132,768,914 - 132,829,081 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12132,768,902 - 132,829,143 (-)EnsemblGRCh38hg38GRCh38
GRCh3712133,345,500 - 133,405,667 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612131,855,568 - 131,915,361 (-)NCBINCBI36Build 36hg18NCBI36
Build 3412131,955,844 - 132,015,638NCBI
Celera12133,044,786 - 133,104,423 (-)NCBICelera
Cytogenetic Map12q24.33NCBI
HuRef12130,123,095 - 130,182,218 (-)NCBIHuRef
CHM1_112133,165,472 - 133,225,444 (-)NCBICHM1_1
T2T-CHM13v2.012132,819,976 - 132,879,866 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8315394   PMID:8889548   PMID:9295333   PMID:10209123   PMID:10737800   PMID:10791974   PMID:12036294   PMID:12130652   PMID:12477932   PMID:14522980   PMID:14702039   PMID:15489334  
PMID:15829563   PMID:15951434   PMID:16051665   PMID:16341674   PMID:16543716   PMID:16714286   PMID:16870622   PMID:17081983   PMID:17118120   PMID:17643375   PMID:17711851   PMID:18029348  
PMID:19322201   PMID:19946888   PMID:20170975   PMID:20379614   PMID:20562859   PMID:21078624   PMID:21653829   PMID:21873635   PMID:22542470   PMID:22814606   PMID:23125841   PMID:23184937  
PMID:23402259   PMID:23443559   PMID:23472066   PMID:23891004   PMID:24566136   PMID:24639526   PMID:24923560   PMID:25468996   PMID:25921289   PMID:25996949   PMID:26186194   PMID:26496610  
PMID:26638075   PMID:27545878   PMID:28514442   PMID:29117863   PMID:29128334   PMID:29395067   PMID:29467256   PMID:29478914   PMID:29507755   PMID:29540532   PMID:29568061   PMID:30021884  
PMID:30561431   PMID:30745168   PMID:31343991   PMID:31519766   PMID:31586073   PMID:31732153   PMID:31871319   PMID:32353859   PMID:32367404   PMID:32807901   PMID:32838362   PMID:32877691  
PMID:33060197   PMID:33111431   PMID:33766124   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34432599   PMID:34597346   PMID:34709266   PMID:34709727   PMID:34728620   PMID:35211260  
PMID:35384245   PMID:35439318   PMID:35776542   PMID:35831314   PMID:35844135   PMID:35906200   PMID:35914814   PMID:36180527   PMID:36215168   PMID:36779422   PMID:36912080   PMID:36964488  
PMID:37689310   PMID:37931956   PMID:38113892  


Genomics

Comparative Map Data
GOLGA3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812132,768,914 - 132,829,081 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12132,768,902 - 132,829,143 (-)EnsemblGRCh38hg38GRCh38
GRCh3712133,345,500 - 133,405,667 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612131,855,568 - 131,915,361 (-)NCBINCBI36Build 36hg18NCBI36
Build 3412131,955,844 - 132,015,638NCBI
Celera12133,044,786 - 133,104,423 (-)NCBICelera
Cytogenetic Map12q24.33NCBI
HuRef12130,123,095 - 130,182,218 (-)NCBIHuRef
CHM1_112133,165,472 - 133,225,444 (-)NCBICHM1_1
T2T-CHM13v2.012132,819,976 - 132,879,866 (-)NCBIT2T-CHM13v2.0
Golga3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395110,324,723 - 110,374,336 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5110,324,567 - 110,374,336 (+)EnsemblGRCm39 Ensembl
GRCm385110,176,857 - 110,226,470 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5110,176,701 - 110,226,470 (+)EnsemblGRCm38mm10GRCm38
MGSCv375110,605,720 - 110,652,174 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365110,417,003 - 110,463,457 (+)NCBIMGSCv36mm8
Celera5107,303,546 - 107,345,286 (+)NCBICelera
Cytogenetic Map5FNCBI
cM Map553.36NCBI
Golga3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81252,112,129 - 52,160,311 (-)NCBIGRCr8
mRatBN7.21246,452,409 - 46,500,509 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1246,454,870 - 46,500,509 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1247,630,590 - 47,676,332 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01248,236,020 - 48,281,763 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01247,296,546 - 47,342,289 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01252,510,509 - 52,558,606 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1252,512,970 - 52,558,606 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01254,246,344 - 54,295,058 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41246,601,638 - 46,647,274 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11246,468,084 - 46,514,090 (-)NCBI
Celera1248,011,114 - 48,056,743 (-)NCBICelera
Cytogenetic Map12q16NCBI
Golga3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955482272,255 - 313,499 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955482272,430 - 313,499 (+)NCBIChiLan1.0ChiLan1.0
GOLGA3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210140,879,242 - 140,948,764 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112140,875,764 - 140,942,423 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v012130,134,892 - 130,189,944 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112134,852,158 - 134,910,777 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12134,852,158 - 134,910,366 (-)Ensemblpanpan1.1panPan2
GOLGA3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.126333,187 - 376,653 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl26338,650 - 373,388 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha26376,263 - 418,642 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.026391,557 - 434,218 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl26391,601 - 434,209 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.126332,668 - 375,663 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.026419,903 - 462,592 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.026350,869 - 393,788 (+)NCBIUU_Cfam_GSD_1.0
Golga3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118121,999,860 - 122,045,200 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366602,678,775 - 2,721,245 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366602,675,886 - 2,721,232 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GOLGA3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1422,689,571 - 22,738,540 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11422,689,304 - 22,738,544 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21424,089,583 - 24,133,634 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GOLGA3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111128,118,286 - 128,166,137 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl11128,114,602 - 128,162,218 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037116,693,306 - 116,748,312 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Golga3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474728,140,584 - 28,182,166 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474728,138,910 - 28,182,182 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GOLGA3
101 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3 copy number gain See cases [RCV000050866] Chr12:118165459..133182322 [GRCh38]
Chr12:118603264..133758908 [GRCh37]
Chr12:117087647..132268981 [NCBI36]
Chr12:12q24.23-24.33		 pathogenic
GRCh38/hg38 12q24.33(chr12:131924544-133191400)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051346]|See cases [RCV000051346] Chr12:131924544..133191400 [GRCh38]
Chr12:132409089..133767986 [GRCh37]
Chr12:130975042..132278059 [NCBI36]
Chr12:12q24.33		 pathogenic
GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3 copy number gain See cases [RCV000051151] Chr12:123444758..133191400 [GRCh38]
Chr12:123929305..133767986 [GRCh37]
Chr12:122495258..132278059 [NCBI36]
Chr12:12q24.31-24.33		 pathogenic
GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3 copy number gain See cases [RCV000053715] Chr12:126403612..133166920 [GRCh38]
Chr12:126888158..133743506 [GRCh37]
Chr12:125454111..132253579 [NCBI36]
Chr12:12q24.32-24.33		 pathogenic
GRCh38/hg38 12q24.33(chr12:131049491-133191400)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053717]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053717]|See cases [RCV000053717] Chr12:131049491..133191400 [GRCh38]
Chr12:131534036..133767986 [GRCh37]
Chr12:130099989..132278059 [NCBI36]
Chr12:12q24.33		 pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3 copy number gain See cases [RCV000053689] Chr12:115131583..133166920 [GRCh38]
Chr12:115569388..133743506 [GRCh37]
Chr12:114053771..132253579 [NCBI36]
Chr12:12q24.21-24.33		 pathogenic
GRCh38/hg38 12q24.23-24.33(chr12:119417382-133191400)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|See cases [RCV000053691] Chr12:119417382..133191400 [GRCh38]
Chr12:119855187..133767986 [GRCh37]
Chr12:118339570..132278059 [NCBI36]
Chr12:12q24.23-24.33		 pathogenic
GRCh38/hg38 12q24.31-24.33(chr12:123365769-133191400)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053693]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053693]|See cases [RCV000053693] Chr12:123365769..133191400 [GRCh38]
Chr12:123850316..133767986 [GRCh37]
Chr12:122416269..132278059 [NCBI36]
Chr12:12q24.31-24.33		 pathogenic
NM_005895.3(GOLGA3):c.883G>A (p.Asp295Asn) single nucleotide variant Malignant melanoma [RCV000069905] Chr12:132808186 [GRCh38]
Chr12:133384772 [GRCh37]
Chr12:131894845 [NCBI36]
Chr12:12q24.33		 not provided
GRCh38/hg38 12q24.33(chr12:132576614-133191400)x1 copy number loss See cases [RCV000133777] Chr12:132576614..133191400 [GRCh38]
Chr12:133153200..133767986 [GRCh37]
Chr12:131663273..132278059 [NCBI36]
Chr12:12q24.33		 pathogenic
GRCh38/hg38 12q24.33(chr12:131650542-133191400)x1 copy number loss See cases [RCV000134173] Chr12:131650542..133191400 [GRCh38]
Chr12:132135087..133767986 [GRCh37]
Chr12:130701040..132278059 [NCBI36]
Chr12:12q24.33		 pathogenic
GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3 copy number gain See cases [RCV000135535] Chr12:123509825..133191400 [GRCh38]
Chr12:123994372..133767986 [GRCh37]
Chr12:122560325..132278059 [NCBI36]
Chr12:12q24.31-24.33		 pathogenic
GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3 copy number gain See cases [RCV000137651] Chr12:120697672..133202490 [GRCh38]
Chr12:121135475..133779076 [GRCh37]
Chr12:119619858..132289149 [NCBI36]
Chr12:12q24.31-24.33		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 copy number gain See cases [RCV000143656] Chr12:114268403..133201316 [GRCh38]
Chr12:114706208..133777902 [GRCh37]
Chr12:113190591..132287975 [NCBI36]
Chr12:12q24.21-24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12q24.33(chr12:131749518-133777902)x1 copy number loss See cases [RCV000449052] Chr12:131749518..133777902 [GRCh37]
Chr12:12q24.33		 pathogenic
GRCh37/hg19 12q24.33(chr12:133091631-133393167)x3 copy number gain See cases [RCV000240061] Chr12:133091631..133393167 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.793G>C (p.Ala265Pro) single nucleotide variant Inborn genetic diseases [RCV003243680] Chr12:132808276 [GRCh38]
Chr12:133384862 [GRCh37]
Chr12:12q24.33		 uncertain significance
GRCh37/hg19 12q24.33(chr12:132382041-133777902)x1 copy number loss See cases [RCV000446819] Chr12:132382041..133777902 [GRCh37]
Chr12:12q24.33		 pathogenic
GRCh37/hg19 12q24.33(chr12:133324869-133777902)x3 copy number gain See cases [RCV000446483] Chr12:133324869..133777902 [GRCh37]
Chr12:12q24.33		 pathogenic
GRCh37/hg19 12q24.33(chr12:131862310-133777902)x1 copy number loss See cases [RCV000447834] Chr12:131862310..133777902 [GRCh37]
Chr12:12q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q24.33(chr12:133061680-133510071)x1 copy number loss See cases [RCV000510309] Chr12:133061680..133510071 [GRCh37]
Chr12:12q24.33		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_001389683.1(GOLGA3):c.4223C>T (p.Ser1408Leu) single nucleotide variant Inborn genetic diseases [RCV003255929] Chr12:132774241 [GRCh38]
Chr12:133350827 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.413C>T (p.Thr138Ile) single nucleotide variant Inborn genetic diseases [RCV003269899] Chr12:132813413 [GRCh38]
Chr12:133389999 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.1468A>C (p.Met490Leu) single nucleotide variant Inborn genetic diseases [RCV003307329] Chr12:132804845 [GRCh38]
Chr12:133381431 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.319T>G (p.Ser107Ala) single nucleotide variant Inborn genetic diseases [RCV003259500] Chr12:132816627 [GRCh38]
Chr12:133393213 [GRCh37]
Chr12:12q24.33		 likely benign
NM_001389683.1(GOLGA3):c.2297A>T (p.Asp766Val) single nucleotide variant Inborn genetic diseases [RCV003295810] Chr12:132796024 [GRCh38]
Chr12:133372610 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.1603G>A (p.Asp535Asn) single nucleotide variant Inborn genetic diseases [RCV003299566] Chr12:132801964 [GRCh38]
Chr12:133378550 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.2569C>T (p.Arg857Cys) single nucleotide variant Inborn genetic diseases [RCV003291450] Chr12:132789269 [GRCh38]
Chr12:133365855 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.2075C>T (p.Ala692Val) single nucleotide variant Inborn genetic diseases [RCV003305206] Chr12:132796564 [GRCh38]
Chr12:133373150 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.2296G>T (p.Asp766Tyr) single nucleotide variant Inborn genetic diseases [RCV003295809] Chr12:132796025 [GRCh38]
Chr12:133372611 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.2224G>A (p.Ala742Thr) single nucleotide variant Inborn genetic diseases [RCV003258069] Chr12:132796097 [GRCh38]
Chr12:133372683 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.1109C>T (p.Ala370Val) single nucleotide variant Inborn genetic diseases [RCV003299248] Chr12:132807960 [GRCh38]
Chr12:133384546 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.3689T>A (p.Val1230Glu) single nucleotide variant Inborn genetic diseases [RCV003289680] Chr12:132777699 [GRCh38]
Chr12:133354285 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.1510G>A (p.Asp504Asn) single nucleotide variant Inborn genetic diseases [RCV003243635] Chr12:132804803 [GRCh38]
Chr12:133381389 [GRCh37]
Chr12:12q24.33		 uncertain significance
GRCh37/hg19 12q24.33(chr12:133046203-133777902)x3 copy number gain See cases [RCV000512177] Chr12:133046203..133777902 [GRCh37]
Chr12:12q24.33		 uncertain significance
GRCh37/hg19 12q24.33(chr12:133187937-133497679)x1 copy number loss See cases [RCV000512473] Chr12:133187937..133497679 [GRCh37]
Chr12:12q24.33		 uncertain significance
GRCh37/hg19 12q24.33(chr12:130973400-133777902)x3 copy number gain not provided [RCV000683469] Chr12:130973400..133777902 [GRCh37]
Chr12:12q24.33		 likely pathogenic
GRCh37/hg19 12q24.23-24.33(chr12:120367241-133777645)x3 copy number gain not provided [RCV000738070] Chr12:120367241..133777645 [GRCh37]
Chr12:12q24.23-24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q24.33(chr12:132879672-133491098)x3 copy number gain not provided [RCV000750633] Chr12:132879672..133491098 [GRCh37]
Chr12:12q24.33		 benign
GRCh37/hg19 12q24.33(chr12:133373125-133384554)x1 copy number loss not provided [RCV000750642] Chr12:133373125..133384554 [GRCh37]
Chr12:12q24.33		 benign
NM_001389683.1(GOLGA3):c.846C>T (p.Ser282=) single nucleotide variant not provided [RCV000882802] Chr12:132808223 [GRCh38]
Chr12:133384809 [GRCh37]
Chr12:12q24.33		 benign
NM_001389683.1(GOLGA3):c.2669T>C (p.Val890Ala) single nucleotide variant not provided [RCV000879856] Chr12:132789169 [GRCh38]
Chr12:133365755 [GRCh37]
Chr12:12q24.33		 benign
GRCh37/hg19 12q24.31-24.33(chr12:125451405-133810935) copy number gain not provided [RCV000767827] Chr12:125451405..133810935 [GRCh37]
Chr12:12q24.31-24.33		 pathogenic
GRCh37/hg19 12q24.33(chr12:133095871-133402932)x3 copy number gain not provided [RCV001006542] Chr12:133095871..133402932 [GRCh37]
Chr12:12q24.33		 uncertain significance
GRCh37/hg19 12q24.33(chr12:131363916-133777645)x3 copy number gain See cases [RCV000790570] Chr12:131363916..133777645 [GRCh37]
Chr12:12q24.33		 pathogenic
GRCh37/hg19 12q24.33(chr12:132975658-133777902)x1 copy number loss not provided [RCV000847172] Chr12:132975658..133777902 [GRCh37]
Chr12:12q24.33		 uncertain significance
GRCh37/hg19 12q24.32-24.33(chr12:126470636-133777902)x1 copy number loss not provided [RCV000848702] Chr12:126470636..133777902 [GRCh37]
Chr12:12q24.32-24.33		 uncertain significance
GRCh37/hg19 12q24.33(chr12:133318988-133423884)x3 copy number gain not provided [RCV000848473] Chr12:133318988..133423884 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.1688C>T (p.Ala563Val) single nucleotide variant not provided [RCV000959386] Chr12:132801879 [GRCh38]
Chr12:133378465 [GRCh37]
Chr12:12q24.33		 benign
NM_001389683.1(GOLGA3):c.1664C>T (p.Thr555Met) single nucleotide variant Inborn genetic diseases [RCV003273702] Chr12:132801903 [GRCh38]
Chr12:133378489 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.19G>A (p.Glu7Lys) single nucleotide variant Inborn genetic diseases [RCV003240819] Chr12:132822110 [GRCh38]
Chr12:133398696 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.1329C>T (p.Ala443=) single nucleotide variant not provided [RCV000887904] Chr12:132804984 [GRCh38]
Chr12:133381570 [GRCh37]
Chr12:12q24.33		 benign
NM_001389683.1(GOLGA3):c.2931G>A (p.Lys977=) single nucleotide variant not provided [RCV000974628] Chr12:132786531 [GRCh38]
Chr12:133363117 [GRCh37]
Chr12:12q24.33		 likely benign
GRCh37/hg19 12q24.33(chr12:133155089-133455925)x3 copy number gain not provided [RCV001260180] Chr12:133155089..133455925 [GRCh37]
Chr12:12q24.33		 uncertain significance
GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3 copy number gain Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001801213] Chr12:117461902..133841395 [GRCh37]
Chr12:12q24.22-24.33		 likely pathogenic
GRCh38/hg38 12q24.33(chr12:132804406-132944910) copy number loss Diaphragmatic hernia [RCV001823069] Chr12:132804406..132944910 [GRCh38]
Chr12:12q24.33		 uncertain significance
NC_000012.11:g.(?_133236030)_(133676672_?)del deletion Colorectal cancer, susceptibility to, 12 [RCV001927013] Chr12:133236030..133676672 [GRCh37]
Chr12:12q24.33		 pathogenic|uncertain significance
GRCh37/hg19 12q24.33(chr12:133187500-133592221)x3 copy number gain not provided [RCV001829236] Chr12:133187500..133592221 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.52A>C (p.Ser18Arg) single nucleotide variant Inborn genetic diseases [RCV003242198] Chr12:132822077 [GRCh38]
Chr12:133398663 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.1090G>A (p.Val364Ile) single nucleotide variant Inborn genetic diseases [RCV002731715] Chr12:132807979 [GRCh38]
Chr12:133384565 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.1102G>A (p.Ala368Thr) single nucleotide variant Inborn genetic diseases [RCV002754258] Chr12:132807967 [GRCh38]
Chr12:133384553 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.967G>A (p.Ala323Thr) single nucleotide variant Inborn genetic diseases [RCV002684513] Chr12:132808102 [GRCh38]
Chr12:133384688 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.3055G>C (p.Ala1019Pro) single nucleotide variant Inborn genetic diseases [RCV002972939] Chr12:132786407 [GRCh38]
Chr12:133362993 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.2362G>A (p.Gly788Ser) single nucleotide variant Inborn genetic diseases [RCV002753902] Chr12:132795959 [GRCh38]
Chr12:133372545 [GRCh37]
Chr12:12q24.33		 likely benign
NM_001389683.1(GOLGA3):c.1108G>A (p.Ala370Thr) single nucleotide variant Inborn genetic diseases [RCV002727896] Chr12:132807961 [GRCh38]
Chr12:133384547 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.2774C>T (p.Ala925Val) single nucleotide variant Inborn genetic diseases [RCV002689108] Chr12:132789064 [GRCh38]
Chr12:133365650 [GRCh37]
Chr12:12q24.33		 likely benign
NM_001389683.1(GOLGA3):c.2417C>T (p.Thr806Met) single nucleotide variant Inborn genetic diseases [RCV002973594] Chr12:132795904 [GRCh38]
Chr12:133372490 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.3857T>C (p.Met1286Thr) single nucleotide variant Inborn genetic diseases [RCV002952008] Chr12:132776755 [GRCh38]
Chr12:133353341 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.3007G>A (p.Val1003Met) single nucleotide variant Inborn genetic diseases [RCV002870553] Chr12:132786455 [GRCh38]
Chr12:133363041 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.1495G>A (p.Ala499Thr) single nucleotide variant Inborn genetic diseases [RCV002950532] Chr12:132804818 [GRCh38]
Chr12:133381404 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.3659A>C (p.Lys1220Thr) single nucleotide variant Inborn genetic diseases [RCV002758971] Chr12:132777729 [GRCh38]
Chr12:133354315 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.1874C>T (p.Thr625Met) single nucleotide variant Inborn genetic diseases [RCV002782183] Chr12:132798404 [GRCh38]
Chr12:133374990 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.3595A>G (p.Lys1199Glu) single nucleotide variant Inborn genetic diseases [RCV002911824] Chr12:132777793 [GRCh38]
Chr12:133354379 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.4439G>A (p.Arg1480His) single nucleotide variant Inborn genetic diseases [RCV002979997] Chr12:132773163 [GRCh38]
Chr12:133349749 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.847G>A (p.Val283Ile) single nucleotide variant Inborn genetic diseases [RCV002783532] Chr12:132808222 [GRCh38]
Chr12:133384808 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.1805G>A (p.Gly602Glu) single nucleotide variant Inborn genetic diseases [RCV002998055] Chr12:132798473 [GRCh38]
Chr12:133375059 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.2963C>T (p.Ala988Val) single nucleotide variant Inborn genetic diseases [RCV002911888] Chr12:132786499 [GRCh38]
Chr12:133363085 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.1766G>A (p.Arg589His) single nucleotide variant Inborn genetic diseases [RCV002758793] Chr12:132801801 [GRCh38]
Chr12:133378387 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.837T>A (p.Ser279Arg) single nucleotide variant Inborn genetic diseases [RCV002697370] Chr12:132808232 [GRCh38]
Chr12:133384818 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.452G>A (p.Arg151Gln) single nucleotide variant Inborn genetic diseases [RCV002916064] Chr12:132813374 [GRCh38]
Chr12:133389960 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.2771C>T (p.Ser924Leu) single nucleotide variant Inborn genetic diseases [RCV002803908] Chr12:132789067 [GRCh38]
Chr12:133365653 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.2221G>A (p.Asp741Asn) single nucleotide variant Inborn genetic diseases [RCV002697960] Chr12:132796100 [GRCh38]
Chr12:133372686 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.4382C>T (p.Thr1461Met) single nucleotide variant Inborn genetic diseases [RCV002763606] Chr12:132773220 [GRCh38]
Chr12:133349806 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.257C>A (p.Thr86Lys) single nucleotide variant Inborn genetic diseases [RCV002762990] Chr12:132816689 [GRCh38]
Chr12:133393275 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.3373G>T (p.Gly1125Cys) single nucleotide variant Inborn genetic diseases [RCV002930125] Chr12:132782388 [GRCh38]
Chr12:133358974 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.1706C>T (p.Ser569Leu) single nucleotide variant Inborn genetic diseases [RCV002640923] Chr12:132801861 [GRCh38]
Chr12:133378447 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.1448C>A (p.Ala483Asp) single nucleotide variant Inborn genetic diseases [RCV002644704] Chr12:132804865 [GRCh38]
Chr12:133381451 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.1061C>T (p.Thr354Ile) single nucleotide variant Inborn genetic diseases [RCV003004207] Chr12:132808008 [GRCh38]
Chr12:133384594 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.3605C>G (p.Ala1202Gly) single nucleotide variant Inborn genetic diseases [RCV002939337] Chr12:132777783 [GRCh38]
Chr12:133354369 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.127G>T (p.Val43Phe) single nucleotide variant Inborn genetic diseases [RCV002812628] Chr12:132822002 [GRCh38]
Chr12:133398588 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.946G>T (p.Asp316Tyr) single nucleotide variant Inborn genetic diseases [RCV002832229] Chr12:132808123 [GRCh38]
Chr12:133384709 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.1580T>G (p.Leu527Arg) single nucleotide variant Inborn genetic diseases [RCV002963660] Chr12:132804733 [GRCh38]
Chr12:133381319 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.3339A>T (p.Glu1113Asp) single nucleotide variant Inborn genetic diseases [RCV002674225] Chr12:132782422 [GRCh38]
Chr12:133359008 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.4258G>A (p.Val1420Met) single nucleotide variant Inborn genetic diseases [RCV002747930] Chr12:132774206 [GRCh38]
Chr12:133350792 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.119A>T (p.Gln40Leu) single nucleotide variant Inborn genetic diseases [RCV002674403] Chr12:132822010 [GRCh38]
Chr12:133398596 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.917G>T (p.Ser306Ile) single nucleotide variant Inborn genetic diseases [RCV002921116] Chr12:132808152 [GRCh38]
Chr12:133384738 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.4435C>G (p.Pro1479Ala) single nucleotide variant Inborn genetic diseases [RCV002961595] Chr12:132773167 [GRCh38]
Chr12:133349753 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.2204G>A (p.Ser735Asn) single nucleotide variant Inborn genetic diseases [RCV002678743] Chr12:132796117 [GRCh38]
Chr12:133372703 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.132G>T (p.Gln44His) single nucleotide variant Inborn genetic diseases [RCV002678869] Chr12:132821997 [GRCh38]
Chr12:133398583 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.3427G>T (p.Ala1143Ser) single nucleotide variant Inborn genetic diseases [RCV002724901] Chr12:132782334 [GRCh38]
Chr12:133358920 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.4082A>G (p.Lys1361Arg) single nucleotide variant Inborn genetic diseases [RCV003186217] Chr12:132775202 [GRCh38]
Chr12:133351788 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.4355C>T (p.Thr1452Met) single nucleotide variant Inborn genetic diseases [RCV003173151] Chr12:132773247 [GRCh38]
Chr12:133349833 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.1525G>A (p.Glu509Lys) single nucleotide variant Inborn genetic diseases [RCV003207750] Chr12:132804788 [GRCh38]
Chr12:133381374 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.2560G>T (p.Ala854Ser) single nucleotide variant Inborn genetic diseases [RCV003190348] Chr12:132789278 [GRCh38]
Chr12:133365864 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.2458A>G (p.Lys820Glu) single nucleotide variant Inborn genetic diseases [RCV003195042] Chr12:132795863 [GRCh38]
Chr12:133372449 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.767C>T (p.Ala256Val) single nucleotide variant Inborn genetic diseases [RCV003200484] Chr12:132808302 [GRCh38]
Chr12:133384888 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.3385G>A (p.Ala1129Thr) single nucleotide variant Inborn genetic diseases [RCV003200778] Chr12:132782376 [GRCh38]
Chr12:133358962 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.4423G>T (p.Gly1475Cys) single nucleotide variant Inborn genetic diseases [RCV003189306] Chr12:132773179 [GRCh38]
Chr12:133349765 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.4168A>G (p.Ser1390Gly) single nucleotide variant Inborn genetic diseases [RCV003259936] Chr12:132774296 [GRCh38]
Chr12:133350882 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.2572G>A (p.Asp858Asn) single nucleotide variant Inborn genetic diseases [RCV003198744] Chr12:132789266 [GRCh38]
Chr12:133365852 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.3684C>G (p.His1228Gln) single nucleotide variant Inborn genetic diseases [RCV003367324] Chr12:132777704 [GRCh38]
Chr12:133354290 [GRCh37]
Chr12:12q24.33		 likely benign
NM_001389683.1(GOLGA3):c.3044C>T (p.Ala1015Val) single nucleotide variant Inborn genetic diseases [RCV003349869] Chr12:132786418 [GRCh38]
Chr12:133363004 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.2297A>G (p.Asp766Gly) single nucleotide variant Inborn genetic diseases [RCV003367436] Chr12:132796024 [GRCh38]
Chr12:133372610 [GRCh37]
Chr12:12q24.33		 uncertain significance
GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3 copy number gain not provided [RCV003484881] Chr12:121551496..133777902 [GRCh37]
Chr12:12q24.31-24.33		 pathogenic
NM_001389683.1(GOLGA3):c.4251G>A (p.Pro1417=) single nucleotide variant not provided [RCV003398317] Chr12:132774213 [GRCh38]
Chr12:133350799 [GRCh37]
Chr12:12q24.33		 likely benign
GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3 copy number gain not provided [RCV003484880] Chr12:120880079..133777902 [GRCh37]
Chr12:12q24.31-24.33		 pathogenic
GRCh37/hg19 12q24.33(chr12:133187938-133383618)x3 copy number gain not provided [RCV003484885] Chr12:133187938..133383618 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.2673C>T (p.His891=) single nucleotide variant not provided [RCV003398318] Chr12:132789165 [GRCh38]
Chr12:133365751 [GRCh37]
Chr12:12q24.33		 likely benign
NM_001389683.1(GOLGA3):c.1727A>G (p.Gln576Arg) single nucleotide variant not provided [RCV003398319] Chr12:132801840 [GRCh38]
Chr12:133378426 [GRCh37]
Chr12:12q24.33		 likely benign
NM_001389683.1(GOLGA3):c.1497G>A (p.Ala499=) single nucleotide variant not provided [RCV003398320] Chr12:132804816 [GRCh38]
Chr12:133381402 [GRCh37]
Chr12:12q24.33		 likely benign
NM_001389683.1(GOLGA3):c.4282C>T (p.Leu1428=) single nucleotide variant not provided [RCV003398316] Chr12:132774182 [GRCh38]
Chr12:133350768 [GRCh37]
Chr12:12q24.33		 likely benign
NM_001389683.1(GOLGA3):c.2862G>A (p.Glu954=) single nucleotide variant not provided [RCV003884927] Chr12:132786737 [GRCh38]
Chr12:133363323 [GRCh37]
Chr12:12q24.33		 likely benign
NM_001389683.1(GOLGA3):c.2339C>T (p.Ala780Val) single nucleotide variant Inborn genetic diseases [RCV003344813] Chr12:132795982 [GRCh38]
Chr12:133372568 [GRCh37]
Chr12:12q24.33		 likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_001389683.1(GOLGA3):c.3055G>T (p.Ala1019Ser) single nucleotide variant Inborn genetic diseases [RCV003269652] Chr12:132786407 [GRCh38]
Chr12:133362993 [GRCh37]
Chr12:12q24.33		 likely benign
GRCh37/hg19 12q24.33(chr12:133228857-133455925)x3 copy number gain not provided [RCV002473582] Chr12:133228857..133455925 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.1880C>G (p.Thr627Ser) single nucleotide variant Inborn genetic diseases [RCV002723993] Chr12:132798398 [GRCh38]
Chr12:133374984 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.208G>A (p.Gly70Arg) single nucleotide variant Inborn genetic diseases [RCV002656336] Chr12:132816738 [GRCh38]
Chr12:133393324 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.874G>A (p.Asp292Asn) single nucleotide variant Inborn genetic diseases [RCV003205867] Chr12:132808195 [GRCh38]
Chr12:133384781 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.1117C>G (p.Gln373Glu) single nucleotide variant Inborn genetic diseases [RCV003197648] Chr12:132807952 [GRCh38]
Chr12:133384538 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.2961C>A (p.Ser987Arg) single nucleotide variant Inborn genetic diseases [RCV003309840] Chr12:132786501 [GRCh38]
Chr12:133363087 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.1994T>C (p.Met665Thr) single nucleotide variant Inborn genetic diseases [RCV003341168] Chr12:132796645 [GRCh38]
Chr12:133373231 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.4187C>T (p.Thr1396Met) single nucleotide variant Inborn genetic diseases [RCV003356694] Chr12:132774277 [GRCh38]
Chr12:133350863 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.2902C>G (p.Arg968Gly) single nucleotide variant Inborn genetic diseases [RCV003342374] Chr12:132786697 [GRCh38]
Chr12:133363283 [GRCh37]
Chr12:12q24.33		 uncertain significance
NM_001389683.1(GOLGA3):c.2747C>A (p.Ala916Glu) single nucleotide variant Inborn genetic diseases [RCV003359894] Chr12:132789091 [GRCh38]
Chr12:133365677 [GRCh37]
Chr12:12q24.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5220
Count of miRNA genes:1259
Interacting mature miRNAs:1608
Transcripts:ENST00000204726, ENST00000450791, ENST00000456883, ENST00000534967, ENST00000537317, ENST00000537452, ENST00000541013, ENST00000545875
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
RH47421  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712133,347,718 - 133,347,869UniSTSGRCh37
Build 3612131,857,791 - 131,857,942RGDNCBI36
Celera12133,047,007 - 133,047,158RGD
Cytogenetic Map12q24.33UniSTS
HuRef12130,125,317 - 130,125,468UniSTS
GeneMap99-GB4 RH Map12503.25UniSTS
G43591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712133,402,132 - 133,402,279UniSTSGRCh37
Build 3612131,912,205 - 131,912,352RGDNCBI36
Celera12133,101,107 - 133,101,254RGD
Cytogenetic Map12q24.33UniSTS
HuRef12130,178,901 - 130,179,048UniSTS
G64708  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712133,375,832 - 133,375,921UniSTSGRCh37
Build 3612131,885,905 - 131,885,994RGDNCBI36
Celera12133,074,884 - 133,074,973RGD
Cytogenetic Map12q24.33UniSTS
HuRef12130,153,153 - 130,153,242UniSTS
D12S1924  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712133,345,599 - 133,345,749UniSTSGRCh37
Build 3612131,855,672 - 131,855,822RGDNCBI36
Celera12133,044,890 - 133,045,040RGD
Cytogenetic Map12q24.33UniSTS
HuRef12130,123,199 - 130,123,349UniSTS
GeneMap99-G3 RH Map122675.0UniSTS
RH69908  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712133,348,243 - 133,348,385UniSTSGRCh37
Build 3612131,858,316 - 131,858,458RGDNCBI36
Celera12133,047,532 - 133,047,674RGD
Cytogenetic Map12q24.33UniSTS
GeneMap99-GB4 RH Map12508.59UniSTS
Cda1jf08  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712133,345,704 - 133,345,826UniSTSGRCh37
Build 3612131,855,777 - 131,855,899RGDNCBI36
Celera12133,044,995 - 133,045,117RGD
Cytogenetic Map12q24.33UniSTS
HuRef12130,123,304 - 130,123,426UniSTS
GeneMap99-GB4 RH Map12508.59UniSTS
GDB:631813  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11p12UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map5q11.2-q13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map3p21.33UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map19p13.3UniSTS


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 2405 1658 1423 343 1210 185 3737 1210 2682 299 1454 1604 174 1 1178 2187 6 2
Low 34 1329 303 281 737 280 620 987 1052 120 6 9 1 26 601
Below cutoff 4 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB027133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC127070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC136467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF485338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF902971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM842318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM981309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ898615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D63997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L06148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000204726   ⟹   ENSP00000204726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,768,902 - 132,828,869 (-)Ensembl
RefSeq Acc Id: ENST00000450791   ⟹   ENSP00000410378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,768,914 - 132,828,869 (-)Ensembl
RefSeq Acc Id: ENST00000456883   ⟹   ENSP00000409303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,774,497 - 132,828,853 (-)Ensembl
RefSeq Acc Id: ENST00000534967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,821,996 - 132,828,869 (-)Ensembl
RefSeq Acc Id: ENST00000537317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,821,996 - 132,828,858 (-)Ensembl
RefSeq Acc Id: ENST00000541013   ⟹   ENSP00000479170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,773,260 - 132,776,692 (-)Ensembl
RefSeq Acc Id: ENST00000545875   ⟹   ENSP00000442603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,783,868 - 132,828,840 (-)Ensembl
RefSeq Acc Id: ENST00000652603   ⟹   ENSP00000498826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,821,996 - 132,825,964 (-)Ensembl
RefSeq Acc Id: ENST00000685120   ⟹   ENSP00000508457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,812,975 - 132,828,841 (-)Ensembl
RefSeq Acc Id: ENST00000685195   ⟹   ENSP00000508905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,784,164 - 132,808,549 (-)Ensembl
RefSeq Acc Id: ENST00000685283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,772,957 - 132,816,811 (-)Ensembl
RefSeq Acc Id: ENST00000685450   ⟹   ENSP00000509372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,821,996 - 132,828,869 (-)Ensembl
RefSeq Acc Id: ENST00000685580   ⟹   ENSP00000508708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,812,948 - 132,828,866 (-)Ensembl
RefSeq Acc Id: ENST00000686425   ⟹   ENSP00000509733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,784,164 - 132,808,549 (-)Ensembl
RefSeq Acc Id: ENST00000686751   ⟹   ENSP00000508660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,812,945 - 132,829,143 (-)Ensembl
RefSeq Acc Id: ENST00000687165   ⟹   ENSP00000509076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,812,948 - 132,828,862 (-)Ensembl
RefSeq Acc Id: ENST00000687190   ⟹   ENSP00000508882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,768,933 - 132,808,549 (-)Ensembl
RefSeq Acc Id: ENST00000687479   ⟹   ENSP00000510361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,775,141 - 132,808,549 (-)Ensembl
RefSeq Acc Id: ENST00000687502   ⟹   ENSP00000509768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,775,141 - 132,808,549 (-)Ensembl
RefSeq Acc Id: ENST00000688068   ⟹   ENSP00000508619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,784,164 - 132,808,549 (-)Ensembl
RefSeq Acc Id: ENST00000688114   ⟹   ENSP00000510765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,768,933 - 132,828,858 (-)Ensembl
RefSeq Acc Id: ENST00000688251   ⟹   ENSP00000510272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,784,164 - 132,828,864 (-)Ensembl
RefSeq Acc Id: ENST00000688772   ⟹   ENSP00000508992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,775,141 - 132,808,549 (-)Ensembl
RefSeq Acc Id: ENST00000689441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,789,046 - 132,811,901 (-)Ensembl
RefSeq Acc Id: ENST00000689813   ⟹   ENSP00000509945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,813,085 - 132,828,864 (-)Ensembl
RefSeq Acc Id: ENST00000690057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,768,916 - 132,772,532 (-)Ensembl
RefSeq Acc Id: ENST00000690178   ⟹   ENSP00000510633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,821,996 - 132,827,713 (-)Ensembl
RefSeq Acc Id: ENST00000690465   ⟹   ENSP00000509955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,773,260 - 132,808,549 (-)Ensembl
RefSeq Acc Id: ENST00000690511   ⟹   ENSP00000508770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,768,933 - 132,808,549 (-)Ensembl
RefSeq Acc Id: ENST00000690573   ⟹   ENSP00000509920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,784,164 - 132,808,549 (-)Ensembl
RefSeq Acc Id: ENST00000690709   ⟹   ENSP00000509986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,775,141 - 132,808,549 (-)Ensembl
RefSeq Acc Id: ENST00000690897   ⟹   ENSP00000509951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,773,041 - 132,828,840 (-)Ensembl
RefSeq Acc Id: ENST00000691636   ⟹   ENSP00000509368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,772,972 - 132,828,820 (-)Ensembl
RefSeq Acc Id: ENST00000691696   ⟹   ENSP00000509869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,772,968 - 132,828,731 (-)Ensembl
RefSeq Acc Id: ENST00000692253   ⟹   ENSP00000510188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,775,141 - 132,808,549 (-)Ensembl
RefSeq Acc Id: ENST00000692289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,825,446 - 132,828,702 (-)Ensembl
RefSeq Acc Id: ENST00000692384   ⟹   ENSP00000509246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,812,954 - 132,828,833 (-)Ensembl
RefSeq Acc Id: ENST00000692831   ⟹   ENSP00000510023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,784,164 - 132,808,549 (-)Ensembl
RefSeq Acc Id: ENST00000692951   ⟹   ENSP00000508562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,785,293 - 132,822,311 (-)Ensembl
RefSeq Acc Id: ENST00000693112   ⟹   ENSP00000508819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,813,307 - 132,828,869 (-)Ensembl
RefSeq Acc Id: ENST00000693437   ⟹   ENSP00000510397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,784,164 - 132,808,549 (-)Ensembl
RefSeq Acc Id: ENST00000693666   ⟹   ENSP00000509929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12132,768,914 - 132,808,549 (-)Ensembl
RefSeq Acc Id: NM_001172557   ⟹   NP_001166028
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,783,868 - 132,828,869 (-)NCBI
GRCh3712133,345,495 - 133,405,659 (-)NCBI
HuRef12130,123,095 - 130,182,218 (-)ENTREZGENE
CHM1_112133,180,260 - 133,225,444 (-)NCBI
T2T-CHM13v2.012132,835,510 - 132,879,654 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001389683   ⟹   NP_001376612
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,768,914 - 132,828,869 (-)NCBI
T2T-CHM13v2.012132,819,976 - 132,879,654 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001389684   ⟹   NP_001376613
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,768,914 - 132,829,081 (-)NCBI
T2T-CHM13v2.012132,819,976 - 132,879,866 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001389685   ⟹   NP_001376614
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,768,914 - 132,828,869 (-)NCBI
T2T-CHM13v2.012132,819,976 - 132,879,654 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001389686   ⟹   NP_001376615
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,768,914 - 132,828,869 (-)NCBI
T2T-CHM13v2.012132,819,976 - 132,879,654 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001389687   ⟹   NP_001376616
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,768,914 - 132,828,869 (-)NCBI
T2T-CHM13v2.012132,819,976 - 132,879,654 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001389688   ⟹   NP_001376617
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,768,914 - 132,828,389 (-)NCBI
T2T-CHM13v2.012132,819,976 - 132,879,153 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001389689   ⟹   NP_001376618
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,768,914 - 132,828,869 (-)NCBI
T2T-CHM13v2.012132,819,976 - 132,879,654 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005895   ⟹   NP_005886
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,768,914 - 132,828,389 (-)NCBI
GRCh3712133,345,495 - 133,405,659 (-)NCBI
Build 3612131,855,568 - 131,915,361 (-)NCBI Archive
HuRef12130,123,095 - 130,182,218 (-)ENTREZGENE
CHM1_112133,165,472 - 133,225,285 (-)NCBI
T2T-CHM13v2.012132,819,976 - 132,879,153 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005266167   ⟹   XP_005266224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,768,914 - 132,811,882 (-)NCBI
GRCh3712133,345,495 - 133,405,659 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011534794   ⟹   XP_011533096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,768,914 - 132,798,427 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448940   ⟹   XP_024304708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,768,914 - 132,828,389 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448941   ⟹   XP_024304709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,768,914 - 132,828,869 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047428705   ⟹   XP_047284661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,768,914 - 132,828,389 (-)NCBI
RefSeq Acc Id: XM_047428706   ⟹   XP_047284662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,768,914 - 132,829,081 (-)NCBI
RefSeq Acc Id: XM_047428707   ⟹   XP_047284663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,768,914 - 132,828,389 (-)NCBI
RefSeq Acc Id: XM_047428708   ⟹   XP_047284664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,768,914 - 132,828,869 (-)NCBI
RefSeq Acc Id: XM_047428709   ⟹   XP_047284665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,768,914 - 132,828,389 (-)NCBI
RefSeq Acc Id: XM_054371756   ⟹   XP_054227731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012132,819,976 - 132,879,153 (-)NCBI
RefSeq Acc Id: XM_054371757   ⟹   XP_054227732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012132,819,976 - 132,879,153 (-)NCBI
RefSeq Acc Id: XM_054371758   ⟹   XP_054227733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012132,819,976 - 132,879,153 (-)NCBI
RefSeq Acc Id: XM_054371759   ⟹   XP_054227734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012132,819,976 - 132,879,654 (-)NCBI
RefSeq Acc Id: XM_054371760   ⟹   XP_054227735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012132,819,976 - 132,879,866 (-)NCBI
RefSeq Acc Id: XM_054371761   ⟹   XP_054227736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012132,819,976 - 132,879,153 (-)NCBI
RefSeq Acc Id: XM_054371762   ⟹   XP_054227737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012132,819,976 - 132,879,654 (-)NCBI
RefSeq Acc Id: XM_054371763   ⟹   XP_054227738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012132,819,976 - 132,862,932 (-)NCBI
RefSeq Acc Id: XM_054371764   ⟹   XP_054227739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012132,819,976 - 132,849,530 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001166028 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376612 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376613 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376614 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376615 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376616 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376617 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376618 (Get FASTA)   NCBI Sequence Viewer  
  NP_005886 (Get FASTA)   NCBI Sequence Viewer  
  XP_005266224 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533096 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304708 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304709 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284661 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284662 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284663 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284664 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284665 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227731 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227732 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227733 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227734 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227735 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227736 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227737 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227738 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227739 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35921 (Get FASTA)   NCBI Sequence Viewer  
  AAH60826 (Get FASTA)   NCBI Sequence Viewer  
  AAI42659 (Get FASTA)   NCBI Sequence Viewer  
  AAI46676 (Get FASTA)   NCBI Sequence Viewer  
  AAL93149 (Get FASTA)   NCBI Sequence Viewer  
  BAA23661 (Get FASTA)   NCBI Sequence Viewer  
  BAB71953 (Get FASTA)   NCBI Sequence Viewer  
  EAW54817 (Get FASTA)   NCBI Sequence Viewer  
  EAW54818 (Get FASTA)   NCBI Sequence Viewer  
  EAW54819 (Get FASTA)   NCBI Sequence Viewer  
  EAW54820 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000204726
  ENSP00000204726.3
  ENSP00000409303.2
  ENSP00000410378
  ENSP00000410378.2
  ENSP00000442603
  ENSP00000442603.1
  ENSP00000498826.2
  ENSP00000508457.1
  ENSP00000508562.1
  ENSP00000508619.1
  ENSP00000508660.1
  ENSP00000508708.1
  ENSP00000508770
  ENSP00000508770.1
  ENSP00000508804.1
  ENSP00000508819.1
  ENSP00000508882.1
  ENSP00000508905.1
  ENSP00000508992.1
  ENSP00000509076.1
  ENSP00000509246.1
  ENSP00000509368.1
  ENSP00000509372.1
  ENSP00000509733.1
  ENSP00000509768.1
  ENSP00000509869
  ENSP00000509869.1
  ENSP00000509920.1
  ENSP00000509929.1
  ENSP00000509945.1
  ENSP00000509951.1
  ENSP00000509955.1
  ENSP00000509986.1
  ENSP00000510023.1
  ENSP00000510188.1
  ENSP00000510272.1
  ENSP00000510292.1
  ENSP00000510361.1
  ENSP00000510397.1
  ENSP00000510633.1
  ENSP00000510765
  ENSP00000510765.1
GenBank Protein Q08378 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_005886   ⟸   NM_005895
- Peptide Label: isoform 1
- UniProtKB: Q8TDA9 (UniProtKB/Swiss-Prot),   Q86XW3 (UniProtKB/Swiss-Prot),   Q6P9C7 (UniProtKB/Swiss-Prot),   O43241 (UniProtKB/Swiss-Prot),   A5PKX6 (UniProtKB/Swiss-Prot),   Q8WZA3 (UniProtKB/Swiss-Prot),   Q08378 (UniProtKB/Swiss-Prot),   A0A8I5KSF0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001166028   ⟸   NM_001172557
- Peptide Label: isoform 2
- UniProtKB: A0A8I5KVX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005266224   ⟸   XM_005266167
- Peptide Label: isoform X2
- UniProtKB: A0A8I5KSF0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011533096   ⟸   XM_011534794
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024304709   ⟸   XM_024448941
- Peptide Label: isoform X1
- UniProtKB: Q8TDA9 (UniProtKB/Swiss-Prot),   Q86XW3 (UniProtKB/Swiss-Prot),   Q6P9C7 (UniProtKB/Swiss-Prot),   Q08378 (UniProtKB/Swiss-Prot),   O43241 (UniProtKB/Swiss-Prot),   A5PKX6 (UniProtKB/Swiss-Prot),   Q8WZA3 (UniProtKB/Swiss-Prot),   A0A8I5KSF0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304708   ⟸   XM_024448940
- Peptide Label: isoform X1
- UniProtKB: Q8TDA9 (UniProtKB/Swiss-Prot),   Q86XW3 (UniProtKB/Swiss-Prot),   Q6P9C7 (UniProtKB/Swiss-Prot),   Q08378 (UniProtKB/Swiss-Prot),   O43241 (UniProtKB/Swiss-Prot),   A5PKX6 (UniProtKB/Swiss-Prot),   Q8WZA3 (UniProtKB/Swiss-Prot),   A0A8I5KSF0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000479170   ⟸   ENST00000541013
RefSeq Acc Id: ENSP00000410378   ⟸   ENST00000450791
RefSeq Acc Id: ENSP00000442603   ⟸   ENST00000545875
RefSeq Acc Id: ENSP00000204726   ⟸   ENST00000204726
RefSeq Acc Id: ENSP00000498826   ⟸   ENST00000652603
RefSeq Acc Id: ENSP00000409303   ⟸   ENST00000456883
RefSeq Acc Id: NP_001376613   ⟸   NM_001389684
- Peptide Label: isoform 1
- UniProtKB: Q8TDA9 (UniProtKB/Swiss-Prot),   Q86XW3 (UniProtKB/Swiss-Prot),   Q6P9C7 (UniProtKB/Swiss-Prot),   Q08378 (UniProtKB/Swiss-Prot),   O43241 (UniProtKB/Swiss-Prot),   A5PKX6 (UniProtKB/Swiss-Prot),   Q8WZA3 (UniProtKB/Swiss-Prot),   A0A8I5KSF0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001376618   ⟸   NM_001389689
- Peptide Label: isoform 4
- UniProtKB: A0A8I5KSF0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001376615   ⟸   NM_001389686
- Peptide Label: isoform 3
- UniProtKB: A0A8I5KWY9 (UniProtKB/TrEMBL),   A0A8I5KSF0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001376612   ⟸   NM_001389683
- Peptide Label: isoform 1
- UniProtKB: Q8TDA9 (UniProtKB/Swiss-Prot),   Q86XW3 (UniProtKB/Swiss-Prot),   Q6P9C7 (UniProtKB/Swiss-Prot),   Q08378 (UniProtKB/Swiss-Prot),   O43241 (UniProtKB/Swiss-Prot),   A5PKX6 (UniProtKB/Swiss-Prot),   Q8WZA3 (UniProtKB/Swiss-Prot),   A0A8I5KSF0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001376616   ⟸   NM_001389687
- Peptide Label: isoform 3
- UniProtKB: A0A8I5KWY9 (UniProtKB/TrEMBL),   A0A8I5KSF0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001376614   ⟸   NM_001389685
- Peptide Label: isoform 1
- UniProtKB: Q8TDA9 (UniProtKB/Swiss-Prot),   Q86XW3 (UniProtKB/Swiss-Prot),   Q6P9C7 (UniProtKB/Swiss-Prot),   Q08378 (UniProtKB/Swiss-Prot),   O43241 (UniProtKB/Swiss-Prot),   A5PKX6 (UniProtKB/Swiss-Prot),   Q8WZA3 (UniProtKB/Swiss-Prot),   A0A8I5KSF0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001376617   ⟸   NM_001389688
- Peptide Label: isoform 3
- UniProtKB: A0A8I5KWY9 (UniProtKB/TrEMBL),   A0A8I5KSF0 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000510188   ⟸   ENST00000692253
RefSeq Acc Id: ENSP00000510272   ⟸   ENST00000688251
RefSeq Acc Id: ENSP00000509929   ⟸   ENST00000693666
RefSeq Acc Id: ENSP00000510765   ⟸   ENST00000688114
RefSeq Acc Id: ENSP00000508660   ⟸   ENST00000686751
RefSeq Acc Id: ENSP00000509246   ⟸   ENST00000692384
RefSeq Acc Id: ENSP00000508882   ⟸   ENST00000687190
RefSeq Acc Id: ENSP00000509733   ⟸   ENST00000686425
RefSeq Acc Id: ENSP00000509869   ⟸   ENST00000691696
RefSeq Acc Id: ENSP00000509945   ⟸   ENST00000689813
RefSeq Acc Id: ENSP00000508905   ⟸   ENST00000685195
RefSeq Acc Id: ENSP00000508992   ⟸   ENST00000688772
RefSeq Acc Id: ENSP00000508819   ⟸   ENST00000693112
RefSeq Acc Id: ENSP00000509372   ⟸   ENST00000685450
RefSeq Acc Id: ENSP00000508457   ⟸   ENST00000685120
RefSeq Acc Id: ENSP00000508770   ⟸   ENST00000690511
RefSeq Acc Id: ENSP00000510633   ⟸   ENST00000690178
RefSeq Acc Id: ENSP00000509951   ⟸   ENST00000690897
RefSeq Acc Id: ENSP00000510023   ⟸   ENST00000692831
RefSeq Acc Id: ENSP00000509920   ⟸   ENST00000690573
RefSeq Acc Id: ENSP00000509368   ⟸   ENST00000691636
RefSeq Acc Id: ENSP00000510397   ⟸   ENST00000693437
RefSeq Acc Id: ENSP00000509986   ⟸   ENST00000690709
RefSeq Acc Id: ENSP00000508619   ⟸   ENST00000688068
RefSeq Acc Id: ENSP00000508708   ⟸   ENST00000685580
RefSeq Acc Id: ENSP00000510361   ⟸   ENST00000687479
RefSeq Acc Id: ENSP00000509076   ⟸   ENST00000687165
RefSeq Acc Id: ENSP00000508562   ⟸   ENST00000692951
RefSeq Acc Id: ENSP00000509955   ⟸   ENST00000690465
RefSeq Acc Id: ENSP00000509768   ⟸   ENST00000687502
RefSeq Acc Id: XP_047284662   ⟸   XM_047428706
- Peptide Label: isoform X1
- UniProtKB: Q8TDA9 (UniProtKB/Swiss-Prot),   Q86XW3 (UniProtKB/Swiss-Prot),   Q6P9C7 (UniProtKB/Swiss-Prot),   Q08378 (UniProtKB/Swiss-Prot),   O43241 (UniProtKB/Swiss-Prot),   A5PKX6 (UniProtKB/Swiss-Prot),   Q8WZA3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284664   ⟸   XM_047428708
- Peptide Label: isoform X1
- UniProtKB: Q8TDA9 (UniProtKB/Swiss-Prot),   Q86XW3 (UniProtKB/Swiss-Prot),   Q6P9C7 (UniProtKB/Swiss-Prot),   Q08378 (UniProtKB/Swiss-Prot),   O43241 (UniProtKB/Swiss-Prot),   A5PKX6 (UniProtKB/Swiss-Prot),   Q8WZA3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284663   ⟸   XM_047428707
- Peptide Label: isoform X1
- UniProtKB: Q8TDA9 (UniProtKB/Swiss-Prot),   Q86XW3 (UniProtKB/Swiss-Prot),   Q6P9C7 (UniProtKB/Swiss-Prot),   Q08378 (UniProtKB/Swiss-Prot),   O43241 (UniProtKB/Swiss-Prot),   A5PKX6 (UniProtKB/Swiss-Prot),   Q8WZA3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284661   ⟸   XM_047428705
- Peptide Label: isoform X1
- UniProtKB: Q8TDA9 (UniProtKB/Swiss-Prot),   Q86XW3 (UniProtKB/Swiss-Prot),   Q6P9C7 (UniProtKB/Swiss-Prot),   Q08378 (UniProtKB/Swiss-Prot),   O43241 (UniProtKB/Swiss-Prot),   A5PKX6 (UniProtKB/Swiss-Prot),   Q8WZA3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284665   ⟸   XM_047428709
- Peptide Label: isoform X1
- UniProtKB: Q8TDA9 (UniProtKB/Swiss-Prot),   Q86XW3 (UniProtKB/Swiss-Prot),   Q6P9C7 (UniProtKB/Swiss-Prot),   Q08378 (UniProtKB/Swiss-Prot),   O43241 (UniProtKB/Swiss-Prot),   A5PKX6 (UniProtKB/Swiss-Prot),   Q8WZA3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227735   ⟸   XM_054371760
- Peptide Label: isoform X1
- UniProtKB: Q8TDA9 (UniProtKB/Swiss-Prot),   Q86XW3 (UniProtKB/Swiss-Prot),   Q6P9C7 (UniProtKB/Swiss-Prot),   Q08378 (UniProtKB/Swiss-Prot),   O43241 (UniProtKB/Swiss-Prot),   A5PKX6 (UniProtKB/Swiss-Prot),   Q8WZA3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227737   ⟸   XM_054371762
- Peptide Label: isoform X1
- UniProtKB: Q8TDA9 (UniProtKB/Swiss-Prot),   Q86XW3 (UniProtKB/Swiss-Prot),   Q6P9C7 (UniProtKB/Swiss-Prot),   Q08378 (UniProtKB/Swiss-Prot),   O43241 (UniProtKB/Swiss-Prot),   A5PKX6 (UniProtKB/Swiss-Prot),   Q8WZA3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227734   ⟸   XM_054371759
- Peptide Label: isoform X1
- UniProtKB: Q8TDA9 (UniProtKB/Swiss-Prot),   Q86XW3 (UniProtKB/Swiss-Prot),   Q6P9C7 (UniProtKB/Swiss-Prot),   Q08378 (UniProtKB/Swiss-Prot),   O43241 (UniProtKB/Swiss-Prot),   A5PKX6 (UniProtKB/Swiss-Prot),   Q8WZA3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227736   ⟸   XM_054371761
- Peptide Label: isoform X1
- UniProtKB: Q8TDA9 (UniProtKB/Swiss-Prot),   Q86XW3 (UniProtKB/Swiss-Prot),   Q6P9C7 (UniProtKB/Swiss-Prot),   Q08378 (UniProtKB/Swiss-Prot),   O43241 (UniProtKB/Swiss-Prot),   A5PKX6 (UniProtKB/Swiss-Prot),   Q8WZA3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227733   ⟸   XM_054371758
- Peptide Label: isoform X1
- UniProtKB: Q8TDA9 (UniProtKB/Swiss-Prot),   Q86XW3 (UniProtKB/Swiss-Prot),   Q6P9C7 (UniProtKB/Swiss-Prot),   Q08378 (UniProtKB/Swiss-Prot),   O43241 (UniProtKB/Swiss-Prot),   A5PKX6 (UniProtKB/Swiss-Prot),   Q8WZA3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227732   ⟸   XM_054371757
- Peptide Label: isoform X1
- UniProtKB: Q8TDA9 (UniProtKB/Swiss-Prot),   Q86XW3 (UniProtKB/Swiss-Prot),   Q6P9C7 (UniProtKB/Swiss-Prot),   Q08378 (UniProtKB/Swiss-Prot),   O43241 (UniProtKB/Swiss-Prot),   A5PKX6 (UniProtKB/Swiss-Prot),   Q8WZA3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227731   ⟸   XM_054371756
- Peptide Label: isoform X1
- UniProtKB: Q8TDA9 (UniProtKB/Swiss-Prot),   Q86XW3 (UniProtKB/Swiss-Prot),   Q6P9C7 (UniProtKB/Swiss-Prot),   Q08378 (UniProtKB/Swiss-Prot),   O43241 (UniProtKB/Swiss-Prot),   A5PKX6 (UniProtKB/Swiss-Prot),   Q8WZA3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227738   ⟸   XM_054371763
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054227739   ⟸   XM_054371764
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q08378-F1-model_v2 AlphaFold Q08378 1-1498 view protein structure

Promoters
RGD ID:6790080
Promoter ID:HG_KWN:17105
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:NM_005895,   UC001ULA.1,   UC001ULB.2,   UC009ZYX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3612131,915,204 - 131,915,704 (-)MPROMDB
RGD ID:7225911
Promoter ID:EPDNEW_H18701
Type:initiation region
Name:GOLGA3_3
Description:golgin A3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18702  EPDNEW_H18703  EPDNEW_H18704  EPDNEW_H18705  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,826,230 - 132,826,290EPDNEW
RGD ID:7225913
Promoter ID:EPDNEW_H18702
Type:initiation region
Name:GOLGA3_4
Description:golgin A3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18701  EPDNEW_H18703  EPDNEW_H18704  EPDNEW_H18705  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,828,681 - 132,828,741EPDNEW
RGD ID:7225915
Promoter ID:EPDNEW_H18703
Type:initiation region
Name:GOLGA3_1
Description:golgin A3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18701  EPDNEW_H18702  EPDNEW_H18704  EPDNEW_H18705  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,828,842 - 132,828,902EPDNEW
RGD ID:7225917
Promoter ID:EPDNEW_H18704
Type:initiation region
Name:GOLGA3_2
Description:golgin A3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18701  EPDNEW_H18702  EPDNEW_H18703  EPDNEW_H18705  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,829,081 - 132,829,141EPDNEW
RGD ID:7225919
Promoter ID:EPDNEW_H18705
Type:initiation region
Name:GOLGA3_5
Description:golgin A3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18701  EPDNEW_H18702  EPDNEW_H18703  EPDNEW_H18704  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812132,836,946 - 132,837,006EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4426 AgrOrtholog
COSMIC GOLGA3 COSMIC
Ensembl Genes ENSG00000090615 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000204726 ENTREZGENE
  ENST00000204726.9 UniProtKB/Swiss-Prot
  ENST00000450791 ENTREZGENE
  ENST00000450791.8 UniProtKB/Swiss-Prot
  ENST00000456883.7 UniProtKB/Swiss-Prot
  ENST00000534967.2 UniProtKB/TrEMBL
  ENST00000537317.2 UniProtKB/TrEMBL
  ENST00000545875 ENTREZGENE
  ENST00000545875.4 UniProtKB/Swiss-Prot
  ENST00000652603.2 UniProtKB/TrEMBL
  ENST00000685120.1 UniProtKB/TrEMBL
  ENST00000685195.1 UniProtKB/TrEMBL
  ENST00000685450.1 UniProtKB/TrEMBL
  ENST00000685580.1 UniProtKB/TrEMBL
  ENST00000686425.1 UniProtKB/TrEMBL
  ENST00000686751.1 UniProtKB/TrEMBL
  ENST00000687165.1 UniProtKB/TrEMBL
  ENST00000687190.1 UniProtKB/TrEMBL
  ENST00000687479.1 UniProtKB/TrEMBL
  ENST00000687502.1 UniProtKB/TrEMBL
  ENST00000688068.1 UniProtKB/TrEMBL
  ENST00000688114 ENTREZGENE
  ENST00000688114.1 UniProtKB/TrEMBL
  ENST00000688251.1 UniProtKB/TrEMBL
  ENST00000688772.1 UniProtKB/TrEMBL
  ENST00000689813.1 UniProtKB/TrEMBL
  ENST00000690178.1 UniProtKB/TrEMBL
  ENST00000690465.1 UniProtKB/TrEMBL
  ENST00000690511 ENTREZGENE
  ENST00000690511.1 UniProtKB/TrEMBL
  ENST00000690573.1 UniProtKB/TrEMBL
  ENST00000690709.1 UniProtKB/TrEMBL
  ENST00000690897.1 UniProtKB/TrEMBL
  ENST00000691636.1 UniProtKB/TrEMBL
  ENST00000691696 ENTREZGENE
  ENST00000691696.1 UniProtKB/TrEMBL
  ENST00000692253.1 UniProtKB/TrEMBL
  ENST00000692384.1 UniProtKB/TrEMBL
  ENST00000692831.1 UniProtKB/TrEMBL
  ENST00000692951.1 UniProtKB/TrEMBL
  ENST00000693112.1 UniProtKB/TrEMBL
  ENST00000693437.1 UniProtKB/TrEMBL
  ENST00000693666.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.1490 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.250.3110 UniProtKB/TrEMBL
GTEx ENSG00000090615 GTEx
HGNC ID HGNC:4426 ENTREZGENE
Human Proteome Map GOLGA3 Human Proteome Map
KEGG Report hsa:2802 UniProtKB/Swiss-Prot
NCBI Gene 2802 ENTREZGENE
OMIM 602581 OMIM
PANTHER NUCLEAR MITOTIC APPARATUS PROTEIN 1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR18902:SF26 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28807 PharmGKB
PRINTS F138DOMAIN UniProtKB/TrEMBL
Superfamily-SCOP Tropomyosin UniProtKB/TrEMBL
UniProt A0A494C129_HUMAN UniProtKB/TrEMBL
  A0A8I5KPC9_HUMAN UniProtKB/TrEMBL
  A0A8I5KQ98_HUMAN UniProtKB/TrEMBL
  A0A8I5KQH9_HUMAN UniProtKB/TrEMBL
  A0A8I5KQL7_HUMAN UniProtKB/TrEMBL
  A0A8I5KQN2_HUMAN UniProtKB/TrEMBL
  A0A8I5KSF0 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KSV3_HUMAN UniProtKB/TrEMBL
  A0A8I5KSX1_HUMAN UniProtKB/TrEMBL
  A0A8I5KTE5_HUMAN UniProtKB/TrEMBL
  A0A8I5KU25_HUMAN UniProtKB/TrEMBL
  A0A8I5KU69_HUMAN UniProtKB/TrEMBL
  A0A8I5KU99_HUMAN UniProtKB/TrEMBL
  A0A8I5KUK6_HUMAN UniProtKB/TrEMBL
  A0A8I5KVX9 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KW20_HUMAN UniProtKB/TrEMBL
  A0A8I5KWY9 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KXF8_HUMAN UniProtKB/TrEMBL
  A0A8I5KYV8_HUMAN UniProtKB/TrEMBL
  A0A8I5QJ69_HUMAN UniProtKB/TrEMBL
  A0A8I5QKK4_HUMAN UniProtKB/TrEMBL
  A0A8I5QKX6_HUMAN UniProtKB/TrEMBL
  A5PKX6 ENTREZGENE
  GOGA3_HUMAN UniProtKB/Swiss-Prot
  O43241 ENTREZGENE
  Q08378 ENTREZGENE
  Q6P9C7 ENTREZGENE
  Q86XW3 ENTREZGENE
  Q8TDA9 ENTREZGENE
  Q8WZA3 ENTREZGENE
UniProt Secondary A5PKX6 UniProtKB/Swiss-Prot
  O43241 UniProtKB/Swiss-Prot
  Q6P9C7 UniProtKB/Swiss-Prot
  Q86XW3 UniProtKB/Swiss-Prot
  Q8TDA9 UniProtKB/Swiss-Prot
  Q8WZA3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 GOLGA3  golgin A3  GOLGA3  golgi autoantigen, golgin subfamily a, 3  Symbol and/or name change 5135510 APPROVED