Canonical Allele Identifier: CA7938306
Gene: GPR139 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.20032184T>C
GRCh37 chr16:g.20043506T>C
Revel Score:
ENST00000326571 0.041
gnomAD v2:
16:20043506 T / C
gnomAD v3:
16:20032184 T / C
gnomAD v4:
chr16-20032184-T-C
Joint Max Group AF 0.00002826 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00002711 (NFE)
ClinVar RCV:
RCV004173179
ClinVar Variation:
2334416
dbSNP:
145592899
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20032184T>C , CM000678.2:g.20032184T>C GRCh38
NC_000016.9:g.20043506T>C , CM000678.1:g.20043506T>C GRCh37
NC_000016.8:g.19951007T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000570682.2:c.613A>G MANE Select ENSP00000458791.2:p.Ile205Val
ENST00000326571.7:c.*559A>G ENSP00000370779.5:n.*559A>G
ENST00000570682.1:c.613A>G ENSP00000458791.1:p.Ile205Val
NM_001002911.2:c.613A>G NP_001002911.1:p.Ile205Val
XM_005255114.2:c.334A>G XP_005255171.1:p.Ile112Val
NM_001002911.3:c.613A>G NP_001002911.1:p.Ile205Val
NM_001318483.1:c.334A>G NP_001305412.1:p.Ile112Val
NM_001002911.4:c.613A>G MANE Select NP_001002911.1:p.Ile205Val
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