Canonical Allele Identifier: CA363329264

Gene: HLA-C

Linked Data

• dbSNP Id: rs1761386005
• gnomAD v3: 6-31271717-C-A
• gnomAD v4: 6-31271717-C-A
• MyVariant Identifiers: chr6:g.31239494C>A (hg19) ; chr6:g.31271717C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271717C>A , CM000668.2:g.31271717C>A	GRCh38
NC_000006.11:g.31239494C>A , CM000668.1:g.31239494C>A	GRCh37
NC_000006.10:g.31347473C>A	NCBI36
NG_029422.2:g.5415G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.225G>T MANE Select	ENSP00000365402.5:p.Trp75Cys
ENST00000376228.9:c.225G>T	ENSP00000365402.5:p.Trp75Cys
ENST00000376237.8:c.225G>T	ENSP00000365412.4:p.Trp75Cys
ENST00000383329.7:c.225G>T	ENSP00000372819.3:p.Trp75Cys
ENST00000415537.1:c.223G>T
ENST00000484378.1:n.244G>T
ENST00000487245.5:n.334G>T
ENST00000495835.1:n.414G>T
NM_002117.5:c.225G>T	NP_002108.4:p.Trp75Cys
NM_002117.6:c.225G>T MANE Select	NP_002108.4:p.Trp75Cys