Canonical Allele Identifier: CA3710759
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs41542424
gnomAD v2: 6-31239056-T-A
gnomAD v3: 6-31271279-T-A
gnomAD v4: 6-31271279-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271279T>A , CM000668.2:g.31271279T>A GRCh38
NC_000006.11:g.31239056T>A , CM000668.1:g.31239056T>A GRCh37
NC_000006.10:g.31347035T>A NCBI36
NG_029422.2:g.5853A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.413A>T MANE Select ENSP00000365402.5:p.Asp138Val
ENST00000376228.9:c.413A>T ENSP00000365402.5:p.Asp138Val
ENST00000376237.8:c.396A>T ENSP00000365412.4:p.Ter132Cys
ENST00000383329.7:c.413A>T ENSP00000372819.3:p.Asp138Val
ENST00000415537.1:c.411A>T
ENST00000484378.1:n.682A>T
ENST00000487245.5:n.772A>T
ENST00000495835.1:n.602A>T
NM_002117.5:c.413A>T NP_002108.4:p.Asp138Val
NM_002117.6:c.413A>T MANE Select NP_002108.4:p.Asp138Val