Canonical Allele Identifier: CA136866367

Gene: HLA-C

Linked Data

• dbSNP Id: rs17413685
• gnomAD v3: 6-31271087-G-T
• gnomAD v4: 6-31271087-G-T
• MyVariant Identifiers: chr6:g.31238864G>T (hg19) ; chr6:g.31271087G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271087G>T , CM000668.2:g.31271087G>T	GRCh38
NC_000006.11:g.31238864G>T , CM000668.1:g.31238864G>T	GRCh37
NC_000006.10:g.31346843G>T	NCBI36
NG_029422.2:g.6045C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.605C>A MANE Select	ENSP00000365402.5:p.Thr202Lys
ENST00000376228.9:c.605C>A	ENSP00000365402.5:p.Thr202Lys
ENST00000376237.8:c.*192C>A	ENSP00000365412.4:n.*192C>A
ENST00000383329.7:c.605C>A	ENSP00000372819.3:p.Thr202Lys
ENST00000415537.1:c.603C>A
ENST00000487245.5:n.964C>A
ENST00000495835.1:n.794C>A
NM_002117.5:c.605C>A	NP_002108.4:p.Thr202Lys
NM_002117.6:c.605C>A MANE Select	NP_002108.4:p.Thr202Lys