Canonical Allele Identifier: CA2038069435

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721754C= , CM000674.2:g.55721754C=	GRCh38
NC_000012.11:g.56115538C= , CM000674.1:g.56115538C=	GRCh37
NC_000012.10:g.54401805C=	NCBI36
NG_008606.1:g.6388C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.376C= MANE Select	ENSP00000257895.6:p.Arg126=
ENST00000257895.9:c.376C=	ENSP00000257895.5:p.Arg126=
ENST00000257899.3:c.391C=
ENST00000547072.5:c.85C=	ENSP00000449927.1:p.Arg29=
ENST00000547301.1:n.484C=
ENST00000548082.1:c.376C=	ENSP00000447128.1:p.Arg126=
ENST00000548123.1:c.300+260C=
ENST00000548486.1:n.386C=
ENST00000549424.1:c.*48C=	ENSP00000447621.1:n.*48C=
ENST00000550412.5:c.*48C=	ENSP00000447650.1:n.*48C=
ENST00000550608.1:n.515C=
ENST00000551946.5:c.*179C=	ENSP00000450201.1:n.*179C=
ENST00000552930.5:c.85C=	ENSP00000448014.1:p.Arg29=
ENST00000553160.1:n.406-441C=
ENST00000553187.5:n.386C=
NM_001199771.1:c.376C=	NP_001186700.1:p.Arg126=
NM_002905.3:c.376C=	NP_002896.2:p.Arg126=
NR_037658.1:n.435C=
NM_001199771.2:c.376C=	NP_001186700.1:p.Arg126=
NM_002905.5:c.376C= MANE Select	NP_002896.2:p.Arg126=
NM_001199771.3:c.376C=	NP_001186700.1:p.Arg126=