Canonical Allele Identifier: CA363048051
Gene: HLA-A HGNC NCBI

Linked Data

gnomAD v4: 6-29944592-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29944592G>C , CM000668.2:g.29944592G>C GRCh38
NC_000006.11:g.29912369G>C , CM000668.1:g.29912369G>C GRCh37
NC_000006.10:g.30020348G>C NCBI36
NG_029217.2:g.7128G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000638375.2:c.895+195G>C ENSP00000492789.2:n.895+195G>C
ENST00000706892.1:n.1944G>C
ENST00000706893.1:c.1022G>C ENSP00000516609.1:p.Arg341Pro
ENST00000706894.1:c.988G>C ENSP00000516610.1:p.Val330Leu
ENST00000706895.1:n.1366G>C
ENST00000706896.1:n.1842G>C
ENST00000706897.1:n.1264G>C
ENST00000706898.1:c.988G>C ENSP00000516611.1:p.Val330Leu
ENST00000706899.1:n.1842G>C
ENST00000706900.1:c.904G>C ENSP00000516617.1:p.Val302Leu
ENST00000706901.1:c.988G>C ENSP00000516612.1:p.Val330Leu
ENST00000706902.1:c.988G>C ENSP00000516613.1:p.Val330Leu
ENST00000706903.1:c.988G>C ENSP00000516614.1:p.Val330Leu
ENST00000706904.1:c.988G>C ENSP00000516615.1:p.Val330Leu
ENST00000706905.1:c.988G>C ENSP00000516616.1:p.Val330Leu
ENST00000376809.10:c.988G>C MANE Select ENSP00000366005.5:p.Val330Leu
ENST00000638375.1:c.895+195G>C ENSP00000492789.1:n.895+195G>C
ENST00000376802.2:c.895+195G>C ENSP00000365998.2:n.895+195G>C
ENST00000376806.9:c.988G>C ENSP00000366002.5:p.Val330Leu
ENST00000376809.9:c.988G>C ENSP00000366005.5:p.Val330Leu
ENST00000396634.5:c.988G>C ENSP00000379873.1:p.Val330Leu
ENST00000461903.1:n.1229G>C
ENST00000479320.5:n.1229G>C
ENST00000495183.5:n.1231G>C
ENST00000496081.5:n.805G>C
NM_002116.7:c.988G>C NP_002107.3:p.Val330Leu
NM_002116.8:c.988G>C MANE Select NP_002107.3:p.Val330Leu