Canonical Allele Identifier: CA12408243
Gene: HLA-DOA HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.33006624G>T
GRCh37 chr6:g.32974401G>T
gnomAD v2:
6:32974401 G / T
gnomAD v3:
6:33006624 G / T
gnomAD v4:
chr6-33006624-G-T
Joint Max Group AF 0.45620186 (EAS)
Genomes Max Group AF 0.55696759 (EAS)
Exomes Max Group AF 0.43771622 (EAS)
dbSNP:
2581
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33006624G>T , CM000668.2:g.33006624G>T GRCh38
NC_000006.11:g.32974401G>T , CM000668.1:g.32974401G>T GRCh37
NC_000006.10:g.33082379G>T NCBI36
NG_012007.1:g.7989C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229829.7:c.*214C>A MANE Select ENSP00000229829.3:n.*214C>A
ENST00000229829.6:c.*214C>A ENSP00000229829.3:n.*214C>A
ENST00000490305.5:n.385C>A
NM_002119.3:c.*214C>A NP_002110.1:n.*214C>A
XM_005249047.3:c.*126C>A XP_005249104.1:n.*126C>A
XM_006715076.2:c.*214C>A XP_006715139.1:n.*214C>A
NM_002119.4:c.*214C>A MANE Select NP_002110.1:n.*214C>A
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