Canonical Allele Identifier: CA2038069432

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721749T= , CM000674.2:g.55721749T=	GRCh38
NC_000012.11:g.56115533T= , CM000674.1:g.56115533T=	GRCh37
NC_000012.10:g.54401800T=	NCBI36
NG_008606.1:g.6383T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.371T= MANE Select	ENSP00000257895.6:p.Leu124=
ENST00000257895.9:c.371T=	ENSP00000257895.5:p.Leu124=
ENST00000257899.3:c.386T=
ENST00000547072.5:c.80T=	ENSP00000449927.1:p.Leu27=
ENST00000547301.1:n.479T=
ENST00000548082.1:c.371T=	ENSP00000447128.1:p.Leu124=
ENST00000548123.1:c.300+255T=
ENST00000548486.1:n.381T=
ENST00000549424.1:c.*43T=	ENSP00000447621.1:n.*43T=
ENST00000550412.5:c.*43T=	ENSP00000447650.1:n.*43T=
ENST00000550608.1:n.510T=
ENST00000551946.5:c.*174T=	ENSP00000450201.1:n.*174T=
ENST00000552930.5:c.80T=	ENSP00000448014.1:p.Leu27=
ENST00000553160.1:n.406-446T=
ENST00000553187.5:n.381T=
NM_001199771.1:c.371T=	NP_001186700.1:p.Leu124=
NM_002905.3:c.371T=	NP_002896.2:p.Leu124=
NR_037658.1:n.430T=
NM_001199771.2:c.371T=	NP_001186700.1:p.Leu124=
NM_002905.5:c.371T= MANE Select	NP_002896.2:p.Leu124=
NM_001199771.3:c.371T=	NP_001186700.1:p.Leu124=