Canonical Allele Identifier: CA363047891
Gene: HLA-A HGNC NCBI

Linked Data

dbSNP Id: rs1159794918
gnomAD v3: 6-29944551-T-C
gnomAD v4: 6-29944551-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29944551T>C , CM000668.2:g.29944551T>C GRCh38
NC_000006.11:g.29912328T>C , CM000668.1:g.29912328T>C GRCh37
NC_000006.10:g.30020307T>C NCBI36
NG_029217.2:g.7087T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000638375.2:c.895+154T>C ENSP00000492789.2:n.895+154T>C
ENST00000706892.1:n.1903T>C
ENST00000706893.1:c.981T>C ENSP00000516609.1:p.Gly327=
ENST00000706894.1:c.947T>C ENSP00000516610.1:p.Val316Ala
ENST00000706895.1:n.1325T>C
ENST00000706896.1:n.1801T>C
ENST00000706897.1:n.1223T>C
ENST00000706898.1:c.947T>C ENSP00000516611.1:p.Val316Ala
ENST00000706899.1:n.1801T>C
ENST00000706900.1:c.863T>C ENSP00000516617.1:p.Val288Ala
ENST00000706901.1:c.947T>C ENSP00000516612.1:p.Val316Ala
ENST00000706902.1:c.947T>C ENSP00000516613.1:p.Val316Ala
ENST00000706903.1:c.947T>C ENSP00000516614.1:p.Val316Ala
ENST00000706904.1:c.947T>C ENSP00000516615.1:p.Val316Ala
ENST00000706905.1:c.947T>C ENSP00000516616.1:p.Val316Ala
ENST00000376809.10:c.947T>C MANE Select ENSP00000366005.5:p.Val316Ala
ENST00000638375.1:c.895+154T>C ENSP00000492789.1:n.895+154T>C
ENST00000376802.2:c.895+154T>C ENSP00000365998.2:n.895+154T>C
ENST00000376806.9:c.947T>C ENSP00000366002.5:p.Val316Ala
ENST00000376809.9:c.947T>C ENSP00000366005.5:p.Val316Ala
ENST00000396634.5:c.947T>C ENSP00000379873.1:p.Val316Ala
ENST00000461903.1:n.1188T>C
ENST00000479320.5:n.1188T>C
ENST00000495183.5:n.1190T>C
ENST00000496081.5:n.764T>C
NM_002116.7:c.947T>C NP_002107.3:p.Val316Ala
NM_002116.8:c.947T>C MANE Select NP_002107.3:p.Val316Ala