Canonical Allele Identifier: CA136867486

Gene: HLA-C

Linked Data

• dbSNP Id: rs281860467
• gnomAD v2: 6-31239055-G-A
• gnomAD v4: 6-31271278-G-A
• MyVariant Identifiers: chr6:g.31239055G>A (hg19) ; chr6:g.31271278G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271278G>A , CM000668.2:g.31271278G>A	GRCh38
NC_000006.11:g.31239055G>A , CM000668.1:g.31239055G>A	GRCh37
NC_000006.10:g.31347034G>A	NCBI36
NG_029422.2:g.5854C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.414C>T MANE Select	ENSP00000365402.5:p.Asp138=
ENST00000376228.9:c.414C>T	ENSP00000365402.5:p.Asp138=
ENST00000376237.8:c.*1C>T	ENSP00000365412.4:n.*1C>T
ENST00000383329.7:c.414C>T	ENSP00000372819.3:p.Asp138=
ENST00000415537.1:c.412C>T
ENST00000484378.1:n.683C>T
ENST00000487245.5:n.773C>T
ENST00000495835.1:n.603C>T
NM_002117.5:c.414C>T	NP_002108.4:p.Asp138=
NM_002117.6:c.414C>T MANE Select	NP_002108.4:p.Asp138=