Canonical Allele Identifier: CA9077898
Gene: DOHH HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.3492396G>A
GRCh37 chr19:g.3492394G>A
Revel Score:
ENST00000427575 (MANE Select) 0.351
ENST00000250937 0.351
gnomAD v2:
19:3492394 G / A
gnomAD v3:
19:3492396 G / A
gnomAD v4:
chr19-3492396-G-A
Joint Max Group AF 0.00070158 (NFE)
Genomes Max Group AF 0.00059873 (NFE)
Exomes Max Group AF 0.00069892 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3492396G>A , CM000681.2:g.3492396G>A GRCh38
NC_000019.9:g.3492394G>A , CM000681.1:g.3492394G>A GRCh37
NC_000019.8:g.3443394G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000427575.6:c.455C>T MANE Select ENSP00000398882.1:p.Pro152Leu
ENST00000671696.1:c.309C>T
ENST00000672935.1:c.455C>T ENSP00000500806.1:p.Pro152Leu
ENST00000673168.1:n.248C>T
ENST00000250937.7:c.455C>T ENSP00000250937.2:p.Pro152Leu
ENST00000427575.5:c.455C>T ENSP00000398882.1:p.Pro152Leu
ENST00000586906.1:n.248C>T
ENST00000587122.1:c.309C>T
ENST00000592858.5:c.455C>T ENSP00000464905.1:p.Pro152Leu
NM_001145165.1:c.455C>T NP_001138637.1:p.Pro152Leu
NM_031304.4:c.455C>T NP_112594.1:p.Pro152Leu
XM_011528340.1:c.455C>T XP_011526642.1:p.Pro152Leu
NM_001145165.2:c.455C>T MANE Select NP_001138637.1:p.Pro152Leu
NM_031304.5:c.455C>T NP_112594.1:p.Pro152Leu
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