Canonical Allele Identifier: CA403321675

Gene: DOHH

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