Canonical Allele Identifier: CA363048598
Gene: HLA-A HGNC NCBI

Linked Data

dbSNP Id: rs1469199431
gnomAD v2: 6-29913016-G-C
gnomAD v4: 6-29945239-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29945239G>C , CM000668.2:g.29945239G>C GRCh38
NC_000006.11:g.29913016G>C , CM000668.1:g.29913016G>C GRCh37
NC_000006.10:g.30020995G>C NCBI36
NG_029217.2:g.7775G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000638375.2:c.934G>C ENSP00000492789.2:p.Asp312His
ENST00000706892.1:n.2591G>C
ENST00000706893.1:c.*35G>C ENSP00000516609.1:n.*35G>C
ENST00000706894.1:c.1051G>C ENSP00000516610.1:p.Asp351His
ENST00000706895.1:n.1871G>C
ENST00000706896.1:n.2347G>C
ENST00000706897.1:n.1769G>C
ENST00000706898.1:c.1069G>C ENSP00000516611.1:p.Asp357His
ENST00000706899.1:n.1905G>C
ENST00000706900.1:c.967G>C ENSP00000516617.1:p.Asp323His
ENST00000706901.1:c.1051G>C ENSP00000516612.1:p.Asp351His
ENST00000706902.1:c.1051G>C ENSP00000516613.1:p.Asp351His
ENST00000706903.1:c.1051G>C ENSP00000516614.1:p.Asp351His
ENST00000706904.1:c.1051G>C ENSP00000516615.1:p.Asp351His
ENST00000706905.1:c.1051G>C ENSP00000516616.1:p.Asp351His
ENST00000376809.10:c.1051G>C MANE Select ENSP00000366005.5:p.Asp351His
ENST00000638375.1:c.934G>C ENSP00000492789.1:p.Asp312His
ENST00000376802.2:c.896-212G>C ENSP00000365998.2:n.896-212G>C
ENST00000376806.9:c.1069G>C ENSP00000366002.5:p.Asp357His
ENST00000376809.9:c.1051G>C ENSP00000366005.5:p.Asp351His
ENST00000396634.5:c.1051G>C ENSP00000379873.1:p.Asp351His
ENST00000461903.1:n.1310G>C
ENST00000479320.5:n.1292G>C
ENST00000495183.5:n.1290G>C
ENST00000496081.5:n.1310G>C
NM_002116.7:c.1051G>C NP_002107.3:p.Asp351His
NM_002116.8:c.1051G>C MANE Select NP_002107.3:p.Asp351His