Canonical Allele Identifier: CA2038069447

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721770G= , CM000674.2:g.55721770G=	GRCh38
NC_000012.11:g.56115554G= , CM000674.1:g.56115554G=	GRCh37
NC_000012.10:g.54401821G=	NCBI36
NG_008606.1:g.6404G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.392G= MANE Select	ENSP00000257895.6:p.Arg131=
ENST00000257895.9:c.392G=	ENSP00000257895.5:p.Arg131=
ENST00000257899.3:c.407G=
ENST00000547072.5:c.101G=	ENSP00000449927.1:p.Arg34=
ENST00000547301.1:n.500G=
ENST00000548082.1:c.392G=	ENSP00000447128.1:p.Arg131=
ENST00000548123.1:c.300+276G=
ENST00000548486.1:n.402G=
ENST00000549424.1:c.*64G=	ENSP00000447621.1:n.*64G=
ENST00000550412.5:c.*64G=	ENSP00000447650.1:n.*64G=
ENST00000550608.1:n.531G=
ENST00000551946.5:c.*195G=	ENSP00000450201.1:n.*195G=
ENST00000552930.5:c.101G=	ENSP00000448014.1:p.Arg34=
ENST00000553160.1:n.406-425G=
ENST00000553187.5:n.402G=
NM_001199771.1:c.392G=	NP_001186700.1:p.Arg131=
NM_002905.3:c.392G=	NP_002896.2:p.Arg131=
NR_037658.1:n.451G=
NM_001199771.2:c.392G=	NP_001186700.1:p.Arg131=
NM_002905.5:c.392G= MANE Select	NP_002896.2:p.Arg131=
NM_001199771.3:c.392G=	NP_001186700.1:p.Arg131=