Canonical Allele Identifier: CA363328502
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs281860431
gnomAD v3: 6-31271607-C-A
gnomAD v4: 6-31271607-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271607C>A , CM000668.2:g.31271607C>A GRCh38
NC_000006.11:g.31239384C>A , CM000668.1:g.31239384C>A GRCh37
NC_000006.10:g.31347363C>A NCBI36
NG_029422.2:g.5525G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.335G>T MANE Select ENSP00000365402.5:p.Ser112Ile
ENST00000376228.9:c.335G>T ENSP00000365402.5:p.Ser112Ile
ENST00000376237.8:c.335G>T ENSP00000365412.4:p.Ser112Ile
ENST00000383329.7:c.335G>T ENSP00000372819.3:p.Ser112Ile
ENST00000415537.1:c.333G>T
ENST00000484378.1:n.354G>T
ENST00000487245.5:n.444G>T
ENST00000495835.1:n.524G>T
NM_002117.5:c.335G>T NP_002108.4:p.Ser112Ile
NM_002117.6:c.335G>T MANE Select NP_002108.4:p.Ser112Ile