Canonical Allele Identifier: CA363322945
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31270484-T-A
gnomAD v4: 6-31270484-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270484T>A , CM000668.2:g.31270484T>A GRCh38
NC_000006.11:g.31238261T>A , CM000668.1:g.31238261T>A GRCh37
NC_000006.10:g.31346240T>A NCBI36
NG_029422.2:g.6648A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.621A>T MANE Select ENSP00000365402.5:p.Glu207Asp
ENST00000376228.9:c.621A>T ENSP00000365402.5:p.Glu207Asp
ENST00000376237.8:c.*208A>T ENSP00000365412.4:n.*208A>T
ENST00000383329.7:c.621A>T ENSP00000372819.3:p.Glu207Asp
ENST00000415537.1:c.619A>T
ENST00000487245.5:n.980A>T
ENST00000495835.1:n.810A>T
NM_002117.5:c.621A>T NP_002108.4:p.Glu207Asp
NM_002117.6:c.621A>T MANE Select NP_002108.4:p.Glu207Asp