Canonical Allele Identifier: CA363321263
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31270338-T-A
gnomAD v4: 6-31270338-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270338T>A , CM000668.2:g.31270338T>A GRCh38
NC_000006.11:g.31238115T>A , CM000668.1:g.31238115T>A GRCh37
NC_000006.10:g.31346094T>A NCBI36
NG_029422.2:g.6794A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.767A>T MANE Select ENSP00000365402.5:p.Glu256Val
ENST00000376228.9:c.767A>T ENSP00000365402.5:p.Glu256Val
ENST00000376237.8:c.*354A>T ENSP00000365412.4:n.*354A>T
ENST00000383329.7:c.767A>T ENSP00000372819.3:p.Glu256Val
ENST00000415537.1:c.665-7A>T
ENST00000470363.5:n.85A>T
ENST00000487245.5:n.1126A>T
ENST00000495835.1:n.956A>T
NM_002117.5:c.767A>T NP_002108.4:p.Glu256Val
NM_002117.6:c.767A>T MANE Select NP_002108.4:p.Glu256Val