Canonical Allele Identifier: CA449461341
Gene: HLA-A HGNC NCBI

Linked Data

dbSNP Id: rs199474488
gnomAD v2: 6-29911076-C-T
gnomAD v4: 6-29943299-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29943299C>T , CM000668.2:g.29943299C>T GRCh38
NC_000006.11:g.29911076C>T , CM000668.1:g.29911076C>T GRCh37
NC_000006.10:g.30019055C>T NCBI36
NG_029217.2:g.5834C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000638375.2:c.375C>T ENSP00000492789.2:p.Cys125=
ENST00000706892.1:n.651C>T
ENST00000706893.1:c.375C>T ENSP00000516609.1:p.Cys125=
ENST00000706894.1:c.375C>T ENSP00000516610.1:p.Cys125=
ENST00000706895.1:n.651C>T
ENST00000706896.1:n.651C>T
ENST00000706897.1:n.651C>T
ENST00000706898.1:c.375C>T ENSP00000516611.1:p.Cys125=
ENST00000706899.1:n.651C>T
ENST00000706900.1:c.291C>T ENSP00000516617.1:p.Cys97=
ENST00000706901.1:c.375C>T ENSP00000516612.1:p.Cys125=
ENST00000706902.1:c.375C>T ENSP00000516613.1:p.Cys125=
ENST00000706903.1:c.375C>T ENSP00000516614.1:p.Cys125=
ENST00000706904.1:c.375C>T ENSP00000516615.1:p.Cys125=
ENST00000706905.1:c.375C>T ENSP00000516616.1:p.Cys125=
ENST00000376809.10:c.375C>T MANE Select ENSP00000366005.5:p.Cys125=
ENST00000638375.1:c.375C>T ENSP00000492789.1:p.Cys125=
ENST00000376802.2:c.375C>T ENSP00000365998.2:p.Cys125=
ENST00000376806.9:c.375C>T ENSP00000366002.5:p.Cys125=
ENST00000376809.9:c.375C>T ENSP00000366005.5:p.Cys125=
ENST00000396634.5:c.375C>T ENSP00000379873.1:p.Cys125=
ENST00000461903.1:n.616C>T
ENST00000479320.5:n.616C>T
ENST00000495183.5:n.618C>T
ENST00000496081.5:n.192C>T
NM_002116.7:c.375C>T NP_002107.3:p.Cys125=
NM_002116.8:c.375C>T MANE Select NP_002107.3:p.Cys125=