Canonical Allele Identifier: CA363319912

Gene: HLA-C

Linked Data

• gnomAD v4: 6-31270085-T-A
• MyVariant Identifiers: chr6:g.31237862T>A (hg19) ; chr6:g.31270085T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270085T>A , CM000668.2:g.31270085T>A	GRCh38
NC_000006.11:g.31237862T>A , CM000668.1:g.31237862T>A	GRCh37
NC_000006.10:g.31345841T>A	NCBI36
NG_029422.2:g.7047A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.896A>T MANE Select	ENSP00000365402.5:p.Glu299Val
ENST00000376228.9:c.896A>T	ENSP00000365402.5:p.Glu299Val
ENST00000376237.8:c.*483A>T	ENSP00000365412.4:n.*483A>T
ENST00000383329.7:c.896A>T	ENSP00000372819.3:p.Glu299Val
ENST00000470363.5:n.214A>T
ENST00000487245.5:n.1255A>T
NM_002117.5:c.896A>T	NP_002108.4:p.Glu299Val
NM_002117.6:c.896A>T MANE Select	NP_002108.4:p.Glu299Val