Canonical Allele Identifier: CA136867532

Gene: HLA-C

Linked Data

• dbSNP Id: rs41555122
• gnomAD v4: 6-31271282-T-A
• MyVariant Identifiers: chr6:g.31239059T>A (hg19) ; chr6:g.31271282T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271282T>A , CM000668.2:g.31271282T>A	GRCh38
NC_000006.11:g.31239059T>A , CM000668.1:g.31239059T>A	GRCh37
NC_000006.10:g.31347038T>A	NCBI36
NG_029422.2:g.5850A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.410A>T MANE Select	ENSP00000365402.5:p.Tyr137Phe
ENST00000376228.9:c.410A>T	ENSP00000365402.5:p.Tyr137Phe
ENST00000376237.8:c.393A>T	ENSP00000365412.4:p.Val131=
ENST00000383329.7:c.410A>T	ENSP00000372819.3:p.Tyr137Phe
ENST00000415537.1:c.408A>T
ENST00000484378.1:n.679A>T
ENST00000487245.5:n.769A>T
ENST00000495835.1:n.599A>T
NM_002117.5:c.410A>T	NP_002108.4:p.Tyr137Phe
NM_002117.6:c.410A>T MANE Select	NP_002108.4:p.Tyr137Phe