Canonical Allele Identifier: CA660995
Gene: DDOST HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.20652522C>T
GRCh37 chr1:g.20979015C>T
Revel Score:
ENST00000375048 0.860
ENST00000415136 0.860
gnomAD v2:
1:20979015 C / T
gnomAD v3:
1:20652522 C / T
gnomAD v4:
chr1-20652522-C-T
Joint Max Group AF 0.00003585 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00003631 (NFE)
ClinVar RCV:
RCV002629346
RCV003992712
ClinVar Variation:
2198382
dbSNP:
200636246
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20652522C>T , CM000663.2:g.20652522C>T GRCh38
NC_000001.10:g.20979015C>T , CM000663.1:g.20979015C>T GRCh37
NC_000001.9:g.20851602C>T NCBI36
NG_008164.1:g.24068C>T
NG_032064.1:g.14023G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000602624.7:c.1177G>A MANE Select ENSP00000473655.2:p.Val393Met
ENST00000375048.7:c.1228G>A ENSP00000364188.3:p.Val410Met
ENST00000415136.6:c.1228G>A ENSP00000399457.3:p.Val410Met
ENST00000602624.6:c.1177G>A ENSP00000473655.1:p.Val393Met
NM_005216.4:c.1228G>A NP_005207.2:p.Val410Met
NM_005216.5:c.1177G>A MANE Select NP_005207.3:p.Val393Met
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