Canonical Allele Identifier: CA2038069411

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721701T= , CM000674.2:g.55721701T=	GRCh38
NC_000012.11:g.56115485T= , CM000674.1:g.56115485T=	GRCh37
NC_000012.10:g.54401752T=	NCBI36
NG_008606.1:g.6335T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.323T= MANE Select	ENSP00000257895.6:p.Leu108=
ENST00000257895.9:c.323T=	ENSP00000257895.5:p.Leu108=
ENST00000257899.3:c.338T=
ENST00000547072.5:c.32T=	ENSP00000449927.1:p.Leu11=
ENST00000547301.1:n.431T=
ENST00000548082.1:c.323T=	ENSP00000447128.1:p.Leu108=
ENST00000548123.1:c.300+207T=
ENST00000548486.1:n.333T=
ENST00000549424.1:c.130T=	ENSP00000447621.1:p.Trp44=
ENST00000550412.5:c.364T=	ENSP00000447650.1:p.Trp122=
ENST00000550608.1:n.462T=
ENST00000551946.5:c.*126T=	ENSP00000450201.1:n.*126T=
ENST00000552930.5:c.32T=	ENSP00000448014.1:p.Leu11=
ENST00000553160.1:n.406-494T=
ENST00000553187.5:n.333T=
NM_001199771.1:c.323T=	NP_001186700.1:p.Leu108=
NM_002905.3:c.323T=	NP_002896.2:p.Leu108=
NR_037658.1:n.382T=
NM_001199771.2:c.323T=	NP_001186700.1:p.Leu108=
NM_002905.5:c.323T= MANE Select	NP_002896.2:p.Leu108=
NM_001199771.3:c.323T=	NP_001186700.1:p.Leu108=