Canonical Allele Identifier: CA136866864

Gene: HLA-C

Linked Data

• dbSNP Id: rs281860511
• gnomAD v4: 6-31271172-C-T
• MyVariant Identifiers: chr6:g.31238949C>T (hg19) ; chr6:g.31271172C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271172C>T , CM000668.2:g.31271172C>T	GRCh38
NC_000006.11:g.31238949C>T , CM000668.1:g.31238949C>T	GRCh37
NC_000006.10:g.31346928C>T	NCBI36
NG_029422.2:g.5960G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.520G>A MANE Select	ENSP00000365402.5:p.Ala174Thr
ENST00000376228.9:c.520G>A	ENSP00000365402.5:p.Ala174Thr
ENST00000376237.8:c.*107G>A	ENSP00000365412.4:n.*107G>A
ENST00000383329.7:c.520G>A	ENSP00000372819.3:p.Ala174Thr
ENST00000415537.1:c.518G>A
ENST00000484378.1:n.789G>A
ENST00000487245.5:n.879G>A
ENST00000495835.1:n.709G>A
NM_002117.5:c.520G>A	NP_002108.4:p.Ala174Thr
NM_002117.6:c.520G>A MANE Select	NP_002108.4:p.Ala174Thr