Canonical Allele Identifier: CA2575183617

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722044T>A , CM000674.2:g.55722044T>A	GRCh38
NC_000012.11:g.56115828T>A , CM000674.1:g.56115828T>A	GRCh37
NC_000012.10:g.54402095T>A	NCBI36
NG_008606.1:g.6678T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+97T>A MANE Select	ENSP00000257895.6:n.569+97T>A
ENST00000257895.9:c.569+97T>A	ENSP00000257895.5:n.569+97T>A
ENST00000257899.3:c.591+90T>A
ENST00000547072.5:c.278+97T>A	ENSP00000449927.1:n.278+97T>A
ENST00000548082.1:c.569+97T>A	ENSP00000447128.1:n.569+97T>A
ENST00000548123.1:c.300+550T>A
ENST00000548486.1:n.676T>A
ENST00000550412.5:c.*338T>A	ENSP00000447650.1:n.*338T>A
ENST00000550608.1:n.805T>A
ENST00000551946.5:c.*469T>A	ENSP00000450201.1:n.*469T>A
ENST00000553160.1:n.406-151T>A
NM_001199771.1:c.569+97T>A	NP_001186700.1:n.569+97T>A
NM_002905.3:c.569+97T>A	NP_002896.2:n.569+97T>A
NR_037658.1:n.628+97T>A
NM_001199771.2:c.569+97T>A	NP_001186700.1:n.569+97T>A
NM_002905.5:c.569+97T>A MANE Select	NP_002896.2:n.569+97T>A
NM_001199771.3:c.569+97T>A	NP_001186700.1:n.569+97T>A