Canonical Allele Identifier: CA3693742
Gene: HLA-A HGNC NCBI
COSMIC:
COSM5019832 (not active)
COSM5019833 (not active)
MyVariant.info:
GRCh38 chr6:g.29945290T>C
GRCh37 chr6:g.29913067T>C
gnomAD v2:
6:29913067 T / C
gnomAD v3:
6:29945290 T / C
gnomAD v4:
chr6-29945290-T-C
Joint Max Group AF 0.53959638 (AMR)
Genomes Max Group AF 0.47052191 (AFR)
Exomes Max Group AF 0.55623541 (AMR)
dbSNP:
3823342
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29945290T>C , CM000668.2:g.29945290T>C GRCh38
NC_000006.11:g.29913067T>C , CM000668.1:g.29913067T>C GRCh37
NC_000006.10:g.30021046T>C NCBI36
NG_029217.2:g.7826T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000638375.2:c.976+9T>C ENSP00000492789.2:n.976+9T>C
ENST00000706892.1:n.2642T>C
ENST00000706893.1:c.*77+9T>C ENSP00000516609.1:n.*77+9T>C
ENST00000706894.1:c.1102T>C ENSP00000516610.1:p.Leu368=
ENST00000706895.1:n.1922T>C
ENST00000706896.1:n.2389+9T>C
ENST00000706897.1:n.1811+9T>C
ENST00000706898.1:c.1111+9T>C ENSP00000516611.1:n.1111+9T>C
ENST00000706899.1:n.1947+9T>C
ENST00000706900.1:c.1009+9T>C ENSP00000516617.1:n.1009+9T>C
ENST00000706901.1:c.1093+9T>C ENSP00000516612.1:n.1093+9T>C
ENST00000706902.1:c.1093+9T>C ENSP00000516613.1:n.1093+9T>C
ENST00000706903.1:c.1093+9T>C ENSP00000516614.1:n.1093+9T>C
ENST00000706904.1:c.1093+9T>C ENSP00000516615.1:n.1093+9T>C
ENST00000706905.1:c.1093+9T>C ENSP00000516616.1:n.1093+9T>C
ENST00000376809.10:c.1093+9T>C MANE Select ENSP00000366005.5:n.1093+9T>C
ENST00000376802.2:c.896-161T>C ENSP00000365998.2:n.896-161T>C
ENST00000376806.9:c.1111+9T>C ENSP00000366002.5:n.1111+9T>C
ENST00000376809.9:c.1093+9T>C ENSP00000366005.5:n.1093+9T>C
ENST00000396634.5:c.1093+9T>C ENSP00000379873.1:n.1093+9T>C
ENST00000495183.5:n.1332+9T>C
ENST00000496081.5:n.1352+9T>C
NM_002116.7:c.1093+9T>C NP_002107.3:n.1093+9T>C
NM_002116.8:c.1093+9T>C MANE Select NP_002107.3:n.1093+9T>C
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