Canonical Allele Identifier: CA136865764

Gene: HLA-C

Linked Data

• dbSNP Id: rs281860565
• gnomAD v3: 6-31270352-G-A
• gnomAD v4: 6-31270352-G-A
• MyVariant Identifiers: chr6:g.31238129G>A (hg19) ; chr6:g.31270352G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270352G>A , CM000668.2:g.31270352G>A	GRCh38
NC_000006.11:g.31238129G>A , CM000668.1:g.31238129G>A	GRCh37
NC_000006.10:g.31346108G>A	NCBI36
NG_029422.2:g.6780C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.753C>T MANE Select	ENSP00000365402.5:p.Asp251=
ENST00000376228.9:c.753C>T	ENSP00000365402.5:p.Asp251=
ENST00000376237.8:c.*340C>T	ENSP00000365412.4:n.*340C>T
ENST00000383329.7:c.753C>T	ENSP00000372819.3:p.Asp251=
ENST00000415537.1:c.665-21C>T
ENST00000470363.5:n.71C>T
ENST00000487245.5:n.1112C>T
ENST00000495835.1:n.942C>T
NM_002117.5:c.753C>T	NP_002108.4:p.Asp251=
NM_002117.6:c.753C>T MANE Select	NP_002108.4:p.Asp251=