Canonical Allele Identifier: CA2038069433

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721752C= , CM000674.2:g.55721752C=	GRCh38
NC_000012.11:g.56115536C= , CM000674.1:g.56115536C=	GRCh37
NC_000012.10:g.54401803C=	NCBI36
NG_008606.1:g.6386C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.374C= MANE Select	ENSP00000257895.6:p.Thr125=
ENST00000257895.9:c.374C=	ENSP00000257895.5:p.Thr125=
ENST00000257899.3:c.389C=
ENST00000547072.5:c.83C=	ENSP00000449927.1:p.Thr28=
ENST00000547301.1:n.482C=
ENST00000548082.1:c.374C=	ENSP00000447128.1:p.Thr125=
ENST00000548123.1:c.300+258C=
ENST00000548486.1:n.384C=
ENST00000549424.1:c.*46C=	ENSP00000447621.1:n.*46C=
ENST00000550412.5:c.*46C=	ENSP00000447650.1:n.*46C=
ENST00000550608.1:n.513C=
ENST00000551946.5:c.*177C=	ENSP00000450201.1:n.*177C=
ENST00000552930.5:c.83C=	ENSP00000448014.1:p.Thr28=
ENST00000553160.1:n.406-443C=
ENST00000553187.5:n.384C=
NM_001199771.1:c.374C=	NP_001186700.1:p.Thr125=
NM_002905.3:c.374C=	NP_002896.2:p.Thr125=
NR_037658.1:n.433C=
NM_001199771.2:c.374C=	NP_001186700.1:p.Thr125=
NM_002905.5:c.374C= MANE Select	NP_002896.2:p.Thr125=
NM_001199771.3:c.374C=	NP_001186700.1:p.Thr125=