Canonical Allele Identifier: CA2038069520

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721926A= , CM000674.2:g.55721926A=	GRCh38
NC_000012.11:g.56115710A= , CM000674.1:g.56115710A=	GRCh37
NC_000012.10:g.54401977A=	NCBI36
NG_008606.1:g.6560A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.548A= MANE Select	ENSP00000257895.6:p.Glu183=
ENST00000257895.9:c.548A=	ENSP00000257895.5:p.Glu183=
ENST00000257899.3:c.563A=
ENST00000547072.5:c.257A=	ENSP00000449927.1:p.Glu86=
ENST00000548082.1:c.548A=	ENSP00000447128.1:p.Glu183=
ENST00000548123.1:c.300+432A=
ENST00000548486.1:n.558A=
ENST00000550412.5:c.*220A=	ENSP00000447650.1:n.*220A=
ENST00000550608.1:n.687A=
ENST00000551946.5:c.*351A=	ENSP00000450201.1:n.*351A=
ENST00000553160.1:n.406-269A=
ENST00000553187.5:n.558A=
NM_001199771.1:c.548A=	NP_001186700.1:p.Glu183=
NM_002905.3:c.548A=	NP_002896.2:p.Glu183=
NR_037658.1:n.607A=
NM_001199771.2:c.548A=	NP_001186700.1:p.Glu183=
NM_002905.5:c.548A= MANE Select	NP_002896.2:p.Glu183=
NM_001199771.3:c.548A=	NP_001186700.1:p.Glu183=