Canonical Allele Identifier: CA363319470

Gene: HLA-C

Linked Data

• gnomAD v4: 6-31269520-T-A
• MyVariant Identifiers: chr6:g.31237297T>A (hg19) ; chr6:g.31269520T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31269520T>A , CM000668.2:g.31269520T>A	GRCh38
NC_000006.11:g.31237297T>A , CM000668.1:g.31237297T>A	GRCh37
NC_000006.10:g.31345276T>A	NCBI36
NG_029422.2:g.7612A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.1021A>T MANE Select	ENSP00000365402.5:p.Lys341Ter
ENST00000376228.9:c.1021A>T	ENSP00000365402.5:p.Lys341Ter
ENST00000376237.8:c.*608A>T	ENSP00000365412.4:n.*608A>T
ENST00000383329.7:c.1039A>T	ENSP00000372819.3:p.Lys347Ter
ENST00000466892.5:n.147A>T
ENST00000470363.5:n.779A>T
ENST00000487245.5:n.1380A>T
NM_002117.5:c.1021A>T	NP_002108.4:p.Lys341Ter
NM_002117.6:c.1021A>T MANE Select	NP_002108.4:p.Lys341Ter