Canonical Allele Identifier: CA3748989
Gene: HLA-DOA HGNC NCBI
COSMIC:
COSM3761965 (not active)
MyVariant.info:
GRCh38 chr6:g.33007157G>A
GRCh37 chr6:g.32974934G>A
gnomAD v2:
6:32974934 G / A
gnomAD v3:
6:33007157 G / A
gnomAD v4:
chr6-33007157-G-A
Joint Max Group AF 0.32641909 (EAS)
Genomes Max Group AF 0.37107142 (EAS)
Exomes Max Group AF 0.31912661 (EAS)
dbSNP:
378352
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33007157G>A , CM000668.2:g.33007157G>A GRCh38
NC_000006.11:g.32974934G>A , CM000668.1:g.32974934G>A GRCh37
NC_000006.10:g.33082912G>A NCBI36
NG_012007.1:g.7456C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000229829.7:c.672C>T MANE Select ENSP00000229829.3:p.Gly224=
ENST00000229829.6:c.672C>T ENSP00000229829.3:p.Gly224=
ENST00000450833.3:c.*485C>T ENSP00000403896.3:n.*485C>T
ENST00000485901.1:n.478C>T
ENST00000490305.5:n.90C>T
NM_002119.3:c.672C>T NP_002110.1:p.Gly224=
XM_005249047.3:c.629C>T XP_005249104.1:p.Ala210Val
XM_006715076.2:c.582C>T XP_006715139.1:p.Gly194=
XM_011514558.1:c.390C>T XP_011512860.1:p.Gly130=
NM_002119.4:c.672C>T MANE Select NP_002110.1:p.Gly224=
Search 100 bp 5'
Search 100 bp 3'