Canonical Allele Identifier: CA2842254849

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721716del , CM000674.2:g.55721716del	GRCh38
NC_000012.11:g.56115500del , CM000674.1:g.56115500del	GRCh37
NC_000012.10:g.54401767del	NCBI36
NG_008606.1:g.6350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.338del MANE Select	ENSP00000257895.6:p.Gly113ValfsTer12
ENST00000257895.9:c.338del	ENSP00000257895.5:p.Gly113ValfsTer12
ENST00000257899.3:c.353del
ENST00000547072.5:c.47del	ENSP00000449927.1:p.Gly16ValfsTer12
ENST00000547301.1:n.446del
ENST00000548082.1:c.338del	ENSP00000447128.1:p.Gly113ValfsTer12
ENST00000548123.1:c.300+222del
ENST00000548486.1:n.348del
ENST00000549424.1:c.*10del	ENSP00000447621.1:n.*10del
ENST00000550412.5:c.*10del	ENSP00000447650.1:n.*10del
ENST00000550608.1:n.477del
ENST00000551946.5:c.*141del	ENSP00000450201.1:n.*141del
ENST00000552930.5:c.47del	ENSP00000448014.1:p.Gly16ValfsTer12
ENST00000553160.1:n.406-479del
ENST00000553187.5:n.348del
NM_001199771.1:c.338del	NP_001186700.1:p.Gly113ValfsTer12
NM_002905.3:c.338del	NP_002896.2:p.Gly113ValfsTer12
NR_037658.1:n.397del
NM_001199771.2:c.338del	NP_001186700.1:p.Gly113ValfsTer12
NM_002905.5:c.338del MANE Select	NP_002896.2:p.Gly113ValfsTer12
NM_001199771.3:c.338del	NP_001186700.1:p.Gly113ValfsTer12