Canonical Allele Identifier: CA12419398
Gene: HLA-DOA HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.33004627T>C
GRCh37 chr6:g.32972404T>C
gnomAD v2:
6:32972404 T / C
gnomAD v3:
6:33004627 T / C
gnomAD v4:
chr6-33004627-T-C
Joint Max Group AF 0.22575495 (AFR)
Genomes Max Group AF 0.22576578 (AFR)
Exomes Max Group AF 0.00888354 (NFE)
dbSNP:
3128935
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33004627T>C , CM000668.2:g.33004627T>C GRCh38
NC_000006.11:g.32972404T>C , CM000668.1:g.32972404T>C GRCh37
NC_000006.10:g.33080382T>C NCBI36
NG_012007.1:g.9986A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000229829.7:c.*2211A>G MANE Select ENSP00000229829.3:n.*2211A>G
ENST00000229829.6:c.*2211A>G ENSP00000229829.3:n.*2211A>G
NM_002119.3:c.*2211A>G NP_002110.1:n.*2211A>G
NM_002119.4:c.*2211A>G MANE Select NP_002110.1:n.*2211A>G
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