Canonical Allele Identifier: CA2038069509

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721905G= , CM000674.2:g.55721905G=	GRCh38
NC_000012.11:g.56115689G= , CM000674.1:g.56115689G=	GRCh37
NC_000012.10:g.54401956G=	NCBI36
NG_008606.1:g.6539G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.527G= MANE Select	ENSP00000257895.6:p.Cys176=
ENST00000257895.9:c.527G=	ENSP00000257895.5:p.Cys176=
ENST00000257899.3:c.542G=
ENST00000547072.5:c.236G=	ENSP00000449927.1:p.Cys79=
ENST00000548082.1:c.527G=	ENSP00000447128.1:p.Cys176=
ENST00000548123.1:c.300+411G=
ENST00000548486.1:n.537G=
ENST00000550412.5:c.*199G=	ENSP00000447650.1:n.*199G=
ENST00000550608.1:n.666G=
ENST00000551946.5:c.*330G=	ENSP00000450201.1:n.*330G=
ENST00000553160.1:n.406-290G=
ENST00000553187.5:n.537G=
NM_001199771.1:c.527G=	NP_001186700.1:p.Cys176=
NM_002905.3:c.527G=	NP_002896.2:p.Cys176=
NR_037658.1:n.586G=
NM_001199771.2:c.527G=	NP_001186700.1:p.Cys176=
NM_002905.5:c.527G= MANE Select	NP_002896.2:p.Cys176=
NM_001199771.3:c.527G=	NP_001186700.1:p.Cys176=