Canonical Allele Identifier: CA119200

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55724427G>A , CM000674.2:g.55724427G>A	GRCh38
NC_000012.11:g.56118211G>A , CM000674.1:g.56118211G>A	GRCh37
NC_000012.10:g.54404478G>A	NCBI36
NG_008347.1:g.9700C>T
NG_008606.1:g.9061G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002905.5:c.839G>A MANE Select	NP_002896.2:p.Arg280His
ENST00000257895.10:c.839G>A MANE Select	ENSP00000257895.6:p.Arg280His
NM_001199771.1:c.839G>A	NP_001186700.1:p.Arg280His
NM_001199771.2:c.839G>A	NP_001186700.1:p.Arg280His
NM_001199771.3:c.839G>A	NP_001186700.1:p.Arg280His
NM_002905.3:c.839G>A	NP_002896.2:p.Arg280His
NR_037658.1:n.898G>A
ENST00000257895.9:c.839G>A	ENSP00000257895.5:p.Arg280His
ENST00000257899.3:c.592-111G>A
ENST00000547072.5:c.548G>A	ENSP00000449927.1:p.Arg183His
ENST00000548082.1:c.839G>A	ENSP00000447128.1:p.Arg280His
ENST00000548123.1:c.570G>A
ENST00000550412.5:c.*2721G>A	ENSP00000447650.1:n.*2721G>A
ENST00000551444.1:n.789G>A