Canonical Allele Identifier: CA6616768

Gene: RDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721392C>T , CM000674.2:g.55721392C>T	GRCh38
NC_000012.11:g.56115176C>T , CM000674.1:g.56115176C>T	GRCh37
NC_000012.10:g.54401443C>T	NCBI36
NG_008606.1:g.6026C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002905.5:c.208C>T MANE Select	NP_002896.2:p.Arg70Trp
ENST00000257895.10:c.208C>T MANE Select	ENSP00000257895.6:p.Arg70Trp
NM_001199771.1:c.208C>T	NP_001186700.1:p.Arg70Trp
NM_001199771.2:c.208C>T	NP_001186700.1:p.Arg70Trp
NM_001199771.3:c.208C>T	NP_001186700.1:p.Arg70Trp
NM_002905.3:c.208C>T	NP_002896.2:p.Arg70Trp
NR_037658.1:n.370-297C>T
ENST00000257895.9:c.208C>T	ENSP00000257895.5:p.Arg70Trp
ENST00000257899.3:c.326-297C>T
ENST00000547072.5:c.-84C>T	ENSP00000449927.1:n.-84C>T
ENST00000547301.1:n.122C>T
ENST00000548082.1:c.208C>T	ENSP00000447128.1:p.Arg70Trp
ENST00000548123.1:c.198C>T
ENST00000548486.1:n.218C>T
ENST00000549424.1:c.118-297C>T	ENSP00000447621.1:n.118-297C>T
ENST00000550412.5:c.352-297C>T	ENSP00000447650.1:n.352-297C>T
ENST00000550608.1:n.347C>T
ENST00000551946.5:c.*114-297C>T	ENSP00000450201.1:n.*114-297C>T
ENST00000552930.5:c.-84C>T	ENSP00000448014.1:n.-84C>T
ENST00000553160.1:n.405+621C>T
ENST00000553187.5:n.218C>T