Canonical Allele Identifier: CA2038069573

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722059T= , CM000674.2:g.55722059T=	GRCh38
NC_000012.11:g.56115843T= , CM000674.1:g.56115843T=	GRCh37
NC_000012.10:g.54402110T=	NCBI36
NG_008606.1:g.6693T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+112T= MANE Select	ENSP00000257895.6:n.569+112T=
ENST00000257895.9:c.569+112T=	ENSP00000257895.5:n.569+112T=
ENST00000257899.3:c.591+105T=
ENST00000547072.5:c.278+112T=	ENSP00000449927.1:n.278+112T=
ENST00000548082.1:c.569+112T=	ENSP00000447128.1:n.569+112T=
ENST00000548123.1:c.300+565T=
ENST00000548486.1:n.691T=
ENST00000550412.5:c.*353T=	ENSP00000447650.1:n.*353T=
ENST00000550608.1:n.820T=
ENST00000551946.5:c.*484T=	ENSP00000450201.1:n.*484T=
ENST00000553160.1:n.406-136T=
NM_001199771.1:c.569+112T=	NP_001186700.1:n.569+112T=
NM_002905.3:c.569+112T=	NP_002896.2:n.569+112T=
NR_037658.1:n.628+112T=
NM_001199771.2:c.569+112T=	NP_001186700.1:n.569+112T=
NM_002905.5:c.569+112T= MANE Select	NP_002896.2:n.569+112T=
NM_001199771.3:c.569+112T=	NP_001186700.1:n.569+112T=