Canonical Allele Identifier: CA136866455

Gene: HLA-C

Linked Data

• dbSNP Id: rs61759943
• gnomAD v3: 6-31271114-C-A
• gnomAD v4: 6-31271114-C-A
• MyVariant Identifiers: chr6:g.31238891C>A (hg19) ; chr6:g.31271114C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271114C>A , CM000668.2:g.31271114C>A	GRCh38
NC_000006.11:g.31238891C>A , CM000668.1:g.31238891C>A	GRCh37
NC_000006.10:g.31346870C>A	NCBI36
NG_029422.2:g.6018G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.578G>T MANE Select	ENSP00000365402.5:p.Arg193Leu
ENST00000376228.9:c.578G>T	ENSP00000365402.5:p.Arg193Leu
ENST00000376237.8:c.*165G>T	ENSP00000365412.4:n.*165G>T
ENST00000383329.7:c.578G>T	ENSP00000372819.3:p.Arg193Leu
ENST00000415537.1:c.576G>T
ENST00000484378.1:n.847G>T
ENST00000487245.5:n.937G>T
ENST00000495835.1:n.767G>T
NM_002117.5:c.578G>T	NP_002108.4:p.Arg193Leu
NM_002117.6:c.578G>T MANE Select	NP_002108.4:p.Arg193Leu