Canonical Allele Identifier: CA403322236

Gene: DOHH

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3492372C>T , CM000681.2:g.3492372C>T	GRCh38
NC_000019.9:g.3492370C>T , CM000681.1:g.3492370C>T	GRCh37
NC_000019.8:g.3443370C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001145165.2:c.479G>A MANE Select	NP_001138637.1:p.Arg160His
ENST00000427575.6:c.479G>A MANE Select	ENSP00000398882.1:p.Arg160His
NM_001145165.1:c.479G>A	NP_001138637.1:p.Arg160His
NM_031304.4:c.479G>A	NP_112594.1:p.Arg160His
NM_031304.5:c.479G>A	NP_112594.1:p.Arg160His
ENST00000250937.7:c.479G>A	ENSP00000250937.2:p.Arg160His
ENST00000427575.5:c.479G>A	ENSP00000398882.1:p.Arg160His
ENST00000586906.1:n.272G>A
ENST00000587122.1:c.333G>A
ENST00000592858.5:c.479G>A	ENSP00000464905.1:p.Arg160His
ENST00000671696.1:c.333G>A
ENST00000672935.1:c.479G>A	ENSP00000500806.1:p.Arg160His
ENST00000673168.1:n.272G>A
XM_011528340.1:c.479G>A	XP_011526642.1:p.Arg160His