Canonical Allele Identifier: CA136867638

Gene: HLA-C

Linked Data

• dbSNP Id: rs281860465
• gnomAD v2: 6-31239065-C-A
• gnomAD v4: 6-31271288-C-A
• MyVariant Identifiers: chr6:g.31239065C>A (hg19) ; chr6:g.31271288C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271288C>A , CM000668.2:g.31271288C>A	GRCh38
NC_000006.11:g.31239065C>A , CM000668.1:g.31239065C>A	GRCh37
NC_000006.10:g.31347044C>A	NCBI36
NG_029422.2:g.5844G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.404G>T MANE Select	ENSP00000365402.5:p.Arg135Leu
ENST00000376228.9:c.404G>T	ENSP00000365402.5:p.Arg135Leu
ENST00000376237.8:c.387G>T	ENSP00000365412.4:p.Pro129=
ENST00000383329.7:c.404G>T	ENSP00000372819.3:p.Arg135Leu
ENST00000415537.1:c.402G>T
ENST00000484378.1:n.673G>T
ENST00000487245.5:n.763G>T
ENST00000495835.1:n.593G>T
NM_002117.5:c.404G>T	NP_002108.4:p.Arg135Leu
NM_002117.6:c.404G>T MANE Select	NP_002108.4:p.Arg135Leu