Canonical Allele Identifier: CA2796088824

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721811del , CM000674.2:g.55721811del	GRCh38
NC_000012.11:g.56115595del , CM000674.1:g.56115595del	GRCh37
NC_000012.10:g.54401862del	NCBI36
NG_008606.1:g.6445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.433del MANE Select	ENSP00000257895.6:p.Ala146ProfsTer13
ENST00000257895.9:c.433del	ENSP00000257895.5:p.Ala146ProfsTer13
ENST00000257899.3:c.448del
ENST00000547072.5:c.142del	ENSP00000449927.1:p.Ala49ProfsTer13
ENST00000547301.1:n.541del
ENST00000548082.1:c.433del	ENSP00000447128.1:p.Ala146ProfsTer13
ENST00000548123.1:c.300+317del
ENST00000548486.1:n.443del
ENST00000550412.5:c.*105del	ENSP00000447650.1:n.*105del
ENST00000550608.1:n.572del
ENST00000551946.5:c.*236del	ENSP00000450201.1:n.*236del
ENST00000552930.5:c.142del	ENSP00000448014.1:p.Ala49ProfsTer?
ENST00000553160.1:n.406-384del
ENST00000553187.5:n.443del
NM_001199771.1:c.433del	NP_001186700.1:p.Ala146ProfsTer13
NM_002905.3:c.433del	NP_002896.2:p.Ala146ProfsTer13
NR_037658.1:n.492del
NM_001199771.2:c.433del	NP_001186700.1:p.Ala146ProfsTer13
NM_002905.5:c.433del MANE Select	NP_002896.2:p.Ala146ProfsTer13
NM_001199771.3:c.433del	NP_001186700.1:p.Ala146ProfsTer13