Canonical Allele Identifier: CA2038069438

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721758A= , CM000674.2:g.55721758A=	GRCh38
NC_000012.11:g.56115542A= , CM000674.1:g.56115542A=	GRCh37
NC_000012.10:g.54401809A=	NCBI36
NG_008606.1:g.6392A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.380A= MANE Select	ENSP00000257895.6:p.Asp127=
ENST00000257895.9:c.380A=	ENSP00000257895.5:p.Asp127=
ENST00000257899.3:c.395A=
ENST00000547072.5:c.89A=	ENSP00000449927.1:p.Asp30=
ENST00000547301.1:n.488A=
ENST00000548082.1:c.380A=	ENSP00000447128.1:p.Asp127=
ENST00000548123.1:c.300+264A=
ENST00000548486.1:n.390A=
ENST00000549424.1:c.*52A=	ENSP00000447621.1:n.*52A=
ENST00000550412.5:c.*52A=	ENSP00000447650.1:n.*52A=
ENST00000550608.1:n.519A=
ENST00000551946.5:c.*183A=	ENSP00000450201.1:n.*183A=
ENST00000552930.5:c.89A=	ENSP00000448014.1:p.Asp30=
ENST00000553160.1:n.406-437A=
ENST00000553187.5:n.390A=
NM_001199771.1:c.380A=	NP_001186700.1:p.Asp127=
NM_002905.3:c.380A=	NP_002896.2:p.Asp127=
NR_037658.1:n.439A=
NM_001199771.2:c.380A=	NP_001186700.1:p.Asp127=
NM_002905.5:c.380A= MANE Select	NP_002896.2:p.Asp127=
NM_001199771.3:c.380A=	NP_001186700.1:p.Asp127=