Canonical Allele Identifier: CA449790484
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31271254-A-G
gnomAD v4: 6-31271254-A-G
MyVariant Identifiers: chr6:g.31239031A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271254A>G , CM000668.2:g.31271254A>G GRCh38
NC_000006.11:g.31239031A>G , CM000668.1:g.31239031A>G GRCh37
NC_000006.10:g.31347010A>G NCBI36
NG_029422.2:g.5878T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.438T>C MANE Select ENSP00000365402.5:p.Asp146=
ENST00000376228.9:c.438T>C ENSP00000365402.5:p.Asp146=
ENST00000376237.8:c.*25T>C ENSP00000365412.4:n.*25T>C
ENST00000383329.7:c.438T>C ENSP00000372819.3:p.Asp146=
ENST00000415537.1:c.436T>C
ENST00000484378.1:n.707T>C
ENST00000487245.5:n.797T>C
ENST00000495835.1:n.627T>C
NM_002117.5:c.438T>C NP_002108.4:p.Asp146=
NM_002117.6:c.438T>C MANE Select NP_002108.4:p.Asp146=