Canonical Allele Identifier: CA403321675
Gene: DOHH HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.3491655A>G
GRCh37 chr19:g.3491653A>G
Revel Score:
ENST00000427575 (MANE Select) 0.520
ENST00000250937 0.520
gnomAD v4:
chr19-3491655-A-G
Joint Max Group AF 2.9e-7 (NFE)
Exomes Max Group AF 3.1e-7 (NFE)
ClinVar RCV:
RCV001868402
RCV002286536
ClinVar Variation:
1285603
dbSNP:
2122051585
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3491655A>G , CM000681.2:g.3491655A>G GRCh38
NC_000019.9:g.3491653A>G , CM000681.1:g.3491653A>G GRCh37
NC_000019.8:g.3442653A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000427575.6:c.746T>C MANE Select ENSP00000398882.1:p.Ile249Thr
ENST00000672935.1:c.746T>C ENSP00000500806.1:p.Ile249Thr
ENST00000673168.1:n.539T>C
ENST00000250937.7:c.746T>C ENSP00000250937.2:p.Ile249Thr
ENST00000427575.5:c.746T>C ENSP00000398882.1:p.Ile249Thr
ENST00000586906.1:n.539T>C
NM_001145165.1:c.746T>C NP_001138637.1:p.Ile249Thr
NM_031304.4:c.746T>C NP_112594.1:p.Ile249Thr
XM_011528340.1:c.746T>C XP_011526642.1:p.Ile249Thr
NM_001145165.2:c.746T>C MANE Select NP_001138637.1:p.Ile249Thr
NM_031304.5:c.746T>C NP_112594.1:p.Ile249Thr
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