Canonical Allele Identifier: CA136867942

Gene: HLA-C

Linked Data

• dbSNP Id: rs281860452
• gnomAD v3: 6-31271317-G-T
• gnomAD v4: 6-31271317-G-T
• MyVariant Identifiers: chr6:g.31239094G>T (hg19) ; chr6:g.31271317G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271317G>T , CM000668.2:g.31271317G>T	GRCh38
NC_000006.11:g.31239094G>T , CM000668.1:g.31239094G>T	GRCh37
NC_000006.10:g.31347073G>T	NCBI36
NG_029422.2:g.5815C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.375C>A MANE Select	ENSP00000365402.5:p.Cys125Ter
ENST00000376228.9:c.375C>A	ENSP00000365402.5:p.Cys125Ter
ENST00000376237.8:c.358C>A	ENSP00000365412.4:p.Arg120=
ENST00000383329.7:c.375C>A	ENSP00000372819.3:p.Cys125Ter
ENST00000415537.1:c.373C>A
ENST00000484378.1:n.644C>A
ENST00000487245.5:n.734C>A
ENST00000495835.1:n.564C>A
NM_002117.5:c.375C>A	NP_002108.4:p.Cys125Ter
NM_002117.6:c.375C>A MANE Select	NP_002108.4:p.Cys125Ter