Canonical Allele Identifier: CA3693545
Gene: HLA-A HGNC NCBI

Linked Data

dbSNP Id: rs752760638
gnomAD v2: 6-29912039-C-T
gnomAD v4: 6-29944262-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29944262C>T , CM000668.2:g.29944262C>T GRCh38
NC_000006.11:g.29912039C>T , CM000668.1:g.29912039C>T GRCh37
NC_000006.10:g.30020018C>T NCBI36
NG_029217.2:g.6798C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000638375.2:c.760C>T ENSP00000492789.2:p.Leu254Phe
ENST00000706892.1:n.1614C>T
ENST00000706893.1:c.760C>T ENSP00000516609.1:p.Leu254Phe
ENST00000706894.1:c.760C>T ENSP00000516610.1:p.Leu254Phe
ENST00000706895.1:n.1036C>T
ENST00000706896.1:n.1614C>T
ENST00000706897.1:n.1036C>T
ENST00000706898.1:c.760C>T ENSP00000516611.1:p.Leu254Phe
ENST00000706899.1:n.1614C>T
ENST00000706900.1:c.676C>T ENSP00000516617.1:p.Leu226Phe
ENST00000706901.1:c.760C>T ENSP00000516612.1:p.Leu254Phe
ENST00000706902.1:c.760C>T ENSP00000516613.1:p.Leu254Phe
ENST00000706903.1:c.760C>T ENSP00000516614.1:p.Leu254Phe
ENST00000706904.1:c.760C>T ENSP00000516615.1:p.Leu254Phe
ENST00000706905.1:c.760C>T ENSP00000516616.1:p.Leu254Phe
ENST00000376809.10:c.760C>T MANE Select ENSP00000366005.5:p.Leu254Phe
ENST00000638375.1:c.760C>T ENSP00000492789.1:p.Leu254Phe
ENST00000376802.2:c.760C>T ENSP00000365998.2:p.Leu254Phe
ENST00000376806.9:c.760C>T ENSP00000366002.5:p.Leu254Phe
ENST00000376809.9:c.760C>T ENSP00000366005.5:p.Leu254Phe
ENST00000396634.5:c.760C>T ENSP00000379873.1:p.Leu254Phe
ENST00000461903.1:n.1001C>T
ENST00000479320.5:n.1001C>T
ENST00000495183.5:n.1003C>T
ENST00000496081.5:n.577C>T
NM_002116.7:c.760C>T NP_002107.3:p.Leu254Phe
NM_002116.8:c.760C>T MANE Select NP_002107.3:p.Leu254Phe