Canonical Allele Identifier: CA2038069434

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721753C= , CM000674.2:g.55721753C=	GRCh38
NC_000012.11:g.56115537C= , CM000674.1:g.56115537C=	GRCh37
NC_000012.10:g.54401804C=	NCBI36
NG_008606.1:g.6387C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.375C= MANE Select	ENSP00000257895.6:p.Thr125=
ENST00000257895.9:c.375C=	ENSP00000257895.5:p.Thr125=
ENST00000257899.3:c.390C=
ENST00000547072.5:c.84C=	ENSP00000449927.1:p.Thr28=
ENST00000547301.1:n.483C=
ENST00000548082.1:c.375C=	ENSP00000447128.1:p.Thr125=
ENST00000548123.1:c.300+259C=
ENST00000548486.1:n.385C=
ENST00000549424.1:c.*47C=	ENSP00000447621.1:n.*47C=
ENST00000550412.5:c.*47C=	ENSP00000447650.1:n.*47C=
ENST00000550608.1:n.514C=
ENST00000551946.5:c.*178C=	ENSP00000450201.1:n.*178C=
ENST00000552930.5:c.84C=	ENSP00000448014.1:p.Thr28=
ENST00000553160.1:n.406-442C=
ENST00000553187.5:n.385C=
NM_001199771.1:c.375C=	NP_001186700.1:p.Thr125=
NM_002905.3:c.375C=	NP_002896.2:p.Thr125=
NR_037658.1:n.434C=
NM_001199771.2:c.375C=	NP_001186700.1:p.Thr125=
NM_002905.5:c.375C= MANE Select	NP_002896.2:p.Thr125=
NM_001199771.3:c.375C=	NP_001186700.1:p.Thr125=