Canonical Allele Identifier: CA2038069483

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721847C= , CM000674.2:g.55721847C=	GRCh38
NC_000012.11:g.56115631C= , CM000674.1:g.56115631C=	GRCh37
NC_000012.10:g.54401898C=	NCBI36
NG_008606.1:g.6481C=

Transcript Alleles

HGVS	Amino-acid Change
NM_002905.5:c.469C= MANE Select	NP_002896.2:p.Arg157=
ENST00000257895.10:c.469C= MANE Select	ENSP00000257895.6:p.Arg157=
NM_001199771.1:c.469C=	NP_001186700.1:p.Arg157=
NM_001199771.2:c.469C=	NP_001186700.1:p.Arg157=
NM_001199771.3:c.469C=	NP_001186700.1:p.Arg157=
NM_002905.3:c.469C=	NP_002896.2:p.Arg157=
NR_037658.1:n.528C=
ENST00000257895.9:c.469C=	ENSP00000257895.5:p.Arg157=
ENST00000257899.3:c.484C=
ENST00000547072.5:c.178C=	ENSP00000449927.1:p.Arg60=
ENST00000548082.1:c.469C=	ENSP00000447128.1:p.Arg157=
ENST00000548123.1:c.300+353C=
ENST00000548486.1:n.479C=
ENST00000550412.5:c.*141C=	ENSP00000447650.1:n.*141C=
ENST00000550608.1:n.608C=
ENST00000551946.5:c.*272C=	ENSP00000450201.1:n.*272C=
ENST00000553160.1:n.406-348C=
ENST00000553187.5:n.479C=