Canonical Allele Identifier: CA2038069498

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721874G= , CM000674.2:g.55721874G=	GRCh38
NC_000012.11:g.56115658G= , CM000674.1:g.56115658G=	GRCh37
NC_000012.10:g.54401925G=	NCBI36
NG_008606.1:g.6508G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.496G= MANE Select	ENSP00000257895.6:p.Gly166=
ENST00000257895.9:c.496G=	ENSP00000257895.5:p.Gly166=
ENST00000257899.3:c.511G=
ENST00000547072.5:c.205G=	ENSP00000449927.1:p.Gly69=
ENST00000548082.1:c.496G=	ENSP00000447128.1:p.Gly166=
ENST00000548123.1:c.300+380G=
ENST00000548486.1:n.506G=
ENST00000550412.5:c.*168G=	ENSP00000447650.1:n.*168G=
ENST00000550608.1:n.635G=
ENST00000551946.5:c.*299G=	ENSP00000450201.1:n.*299G=
ENST00000553160.1:n.406-321G=
ENST00000553187.5:n.506G=
NM_001199771.1:c.496G=	NP_001186700.1:p.Gly166=
NM_002905.3:c.496G=	NP_002896.2:p.Gly166=
NR_037658.1:n.555G=
NM_001199771.2:c.496G=	NP_001186700.1:p.Gly166=
NM_002905.5:c.496G= MANE Select	NP_002896.2:p.Gly166=
NM_001199771.3:c.496G=	NP_001186700.1:p.Gly166=