Canonical Allele Identifier: CA10765433
Gene: DDOST HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.20653325A>T
GRCh37 chr1:g.20979818A>T
gnomAD v2:
1:20979818 A / T
gnomAD v3:
1:20653325 A / T
gnomAD v4:
chr1-20653325-A-T
Joint Max Group AF 0.87283407 (NFE)
Genomes Max Group AF 0.87283407 (NFE)
ClinVar RCV:
RCV001595762
ClinVar Variation:
1221944
dbSNP:
622525
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20653325A>T , CM000663.2:g.20653325A>T GRCh38
NC_000001.10:g.20979818A>T , CM000663.1:g.20979818A>T GRCh37
NC_000001.9:g.20852405A>T NCBI36
NG_008164.1:g.24871A>T
NG_032064.1:g.13220T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000602624.7:c.942+302T>A MANE Select ENSP00000473655.2:n.942+302T>A
ENST00000375048.7:c.993+302T>A ENSP00000364188.3:n.993+302T>A
ENST00000415136.6:c.993+302T>A ENSP00000399457.3:n.993+302T>A
ENST00000602624.6:c.942+302T>A ENSP00000473655.1:n.942+302T>A
NM_005216.4:c.993+302T>A NP_005207.2:n.993+302T>A
NM_005216.5:c.942+302T>A MANE Select NP_005207.3:n.942+302T>A
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