Canonical Allele Identifier: CA363322479

Gene: HLA-C

Linked Data

• gnomAD v3: 6-31270431-A-T
• gnomAD v4: 6-31270431-A-T
• MyVariant Identifiers: chr6:g.31238208A>T (hg19) ; chr6:g.31270431A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270431A>T , CM000668.2:g.31270431A>T	GRCh38
NC_000006.11:g.31238208A>T , CM000668.1:g.31238208A>T	GRCh37
NC_000006.10:g.31346187A>T	NCBI36
NG_029422.2:g.6701T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.674T>A MANE Select	ENSP00000365402.5:p.Leu225Gln
ENST00000376228.9:c.674T>A	ENSP00000365402.5:p.Leu225Gln
ENST00000376237.8:c.*261T>A	ENSP00000365412.4:n.*261T>A
ENST00000383329.7:c.674T>A	ENSP00000372819.3:p.Leu225Gln
ENST00000415537.1:c.664+8T>A
ENST00000487245.5:n.1033T>A
ENST00000495835.1:n.863T>A
NM_002117.5:c.674T>A	NP_002108.4:p.Leu225Gln
NM_002117.6:c.674T>A MANE Select	NP_002108.4:p.Leu225Gln