Canonical Allele Identifier: CA136866980

Gene: HLA-C

Linked Data

• dbSNP Id: rs281860501
• gnomAD v3: 6-31271192-G-A
• gnomAD v4: 6-31271192-G-A
• MyVariant Identifiers: chr6:g.31238969G>A (hg19) ; chr6:g.31271192G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271192G>A , CM000668.2:g.31271192G>A	GRCh38
NC_000006.11:g.31238969G>A , CM000668.1:g.31238969G>A	GRCh37
NC_000006.10:g.31346948G>A	NCBI36
NG_029422.2:g.5940C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.500C>T MANE Select	ENSP00000365402.5:p.Thr167Ile
ENST00000376228.9:c.500C>T	ENSP00000365402.5:p.Thr167Ile
ENST00000376237.8:c.*87C>T	ENSP00000365412.4:n.*87C>T
ENST00000383329.7:c.500C>T	ENSP00000372819.3:p.Thr167Ile
ENST00000415537.1:c.498C>T
ENST00000484378.1:n.769C>T
ENST00000487245.5:n.859C>T
ENST00000495835.1:n.689C>T
NM_002117.5:c.500C>T	NP_002108.4:p.Thr167Ile
NM_002117.6:c.500C>T MANE Select	NP_002108.4:p.Thr167Ile