Canonical Allele Identifier: CA136867979

Gene: HLA-C

Linked Data

• dbSNP Id: rs281860451
• gnomAD v3: 6-31271319-A-T
• gnomAD v4: 6-31271319-A-T
• MyVariant Identifiers: chr6:g.31239096A>T (hg19) ; chr6:g.31271319A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271319A>T , CM000668.2:g.31271319A>T	GRCh38
NC_000006.11:g.31239096A>T , CM000668.1:g.31239096A>T	GRCh37
NC_000006.10:g.31347075A>T	NCBI36
NG_029422.2:g.5813T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.373T>A MANE Select	ENSP00000365402.5:p.Cys125Ser
ENST00000376228.9:c.373T>A	ENSP00000365402.5:p.Cys125Ser
ENST00000376237.8:c.356T>A	ENSP00000365412.4:p.Leu119Gln
ENST00000383329.7:c.373T>A	ENSP00000372819.3:p.Cys125Ser
ENST00000415537.1:c.371T>A
ENST00000484378.1:n.642T>A
ENST00000487245.5:n.732T>A
ENST00000495835.1:n.562T>A
NM_002117.5:c.373T>A	NP_002108.4:p.Cys125Ser
NM_002117.6:c.373T>A MANE Select	NP_002108.4:p.Cys125Ser