Canonical Allele Identifier: CA2038069458

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721788C= , CM000674.2:g.55721788C=	GRCh38
NC_000012.11:g.56115572C= , CM000674.1:g.56115572C=	GRCh37
NC_000012.10:g.54401839C=	NCBI36
NG_008606.1:g.6422C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.410C= MANE Select	ENSP00000257895.6:p.Thr137=
ENST00000257895.9:c.410C=	ENSP00000257895.5:p.Thr137=
ENST00000257899.3:c.425C=
ENST00000547072.5:c.119C=	ENSP00000449927.1:p.Thr40=
ENST00000547301.1:n.518C=
ENST00000548082.1:c.410C=	ENSP00000447128.1:p.Thr137=
ENST00000548123.1:c.300+294C=
ENST00000548486.1:n.420C=
ENST00000549424.1:c.*82C=	ENSP00000447621.1:n.*82C=
ENST00000550412.5:c.*82C=	ENSP00000447650.1:n.*82C=
ENST00000550608.1:n.549C=
ENST00000551946.5:c.*213C=	ENSP00000450201.1:n.*213C=
ENST00000552930.5:c.119C=	ENSP00000448014.1:p.Thr40=
ENST00000553160.1:n.406-407C=
ENST00000553187.5:n.420C=
NM_001199771.1:c.410C=	NP_001186700.1:p.Thr137=
NM_002905.3:c.410C=	NP_002896.2:p.Thr137=
NR_037658.1:n.469C=
NM_001199771.2:c.410C=	NP_001186700.1:p.Thr137=
NM_002905.5:c.410C= MANE Select	NP_002896.2:p.Thr137=
NM_001199771.3:c.410C=	NP_001186700.1:p.Thr137=