Canonical Allele Identifier: CA363325843

Gene: HLA-C

Linked Data

• dbSNP Id: rs1254596316
• gnomAD v2: 6-31238987-T-G
• gnomAD v4: 6-31271210-T-G
• MyVariant Identifiers: chr6:g.31238987T>G (hg19) ; chr6:g.31271210T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271210T>G , CM000668.2:g.31271210T>G	GRCh38
NC_000006.11:g.31238987T>G , CM000668.1:g.31238987T>G	GRCh37
NC_000006.10:g.31346966T>G	NCBI36
NG_029422.2:g.5922A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.482A>C MANE Select	ENSP00000365402.5:p.Asp161Ala
ENST00000376228.9:c.482A>C	ENSP00000365402.5:p.Asp161Ala
ENST00000376237.8:c.*69A>C	ENSP00000365412.4:n.*69A>C
ENST00000383329.7:c.482A>C	ENSP00000372819.3:p.Asp161Ala
ENST00000415537.1:c.480A>C
ENST00000484378.1:n.751A>C
ENST00000487245.5:n.841A>C
ENST00000495835.1:n.671A>C
NM_002117.5:c.482A>C	NP_002108.4:p.Asp161Ala
NM_002117.6:c.482A>C MANE Select	NP_002108.4:p.Asp161Ala