Canonical Allele Identifier: CA2038069502

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721885A= , CM000674.2:g.55721885A=	GRCh38
NC_000012.11:g.56115669A= , CM000674.1:g.56115669A=	GRCh37
NC_000012.10:g.54401936A=	NCBI36
NG_008606.1:g.6519A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.507A= MANE Select	ENSP00000257895.6:p.Ala169=
ENST00000257895.9:c.507A=	ENSP00000257895.5:p.Ala169=
ENST00000257899.3:c.522A=
ENST00000547072.5:c.216A=	ENSP00000449927.1:p.Ala72=
ENST00000548082.1:c.507A=	ENSP00000447128.1:p.Ala169=
ENST00000548123.1:c.300+391A=
ENST00000548486.1:n.517A=
ENST00000550412.5:c.*179A=	ENSP00000447650.1:n.*179A=
ENST00000550608.1:n.646A=
ENST00000551946.5:c.*310A=	ENSP00000450201.1:n.*310A=
ENST00000553160.1:n.406-310A=
ENST00000553187.5:n.517A=
NM_001199771.1:c.507A=	NP_001186700.1:p.Ala169=
NM_002905.3:c.507A=	NP_002896.2:p.Ala169=
NR_037658.1:n.566A=
NM_001199771.2:c.507A=	NP_001186700.1:p.Ala169=
NM_002905.5:c.507A= MANE Select	NP_002896.2:p.Ala169=
NM_001199771.3:c.507A=	NP_001186700.1:p.Ala169=