Canonical Allele Identifier: CA2038069566
Gene: RDH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55722039A= , CM000674.2:g.55722039A= GRCh38
NC_000012.11:g.56115823A= , CM000674.1:g.56115823A= GRCh37
NC_000012.10:g.54402090A= NCBI36
NG_008606.1:g.6673A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000257895.10:c.569+92A= MANE Select ENSP00000257895.6:n.569+92A=
ENST00000257895.9:c.569+92A= ENSP00000257895.5:n.569+92A=
ENST00000257899.3:c.591+85A=
ENST00000547072.5:c.278+92A= ENSP00000449927.1:n.278+92A=
ENST00000548082.1:c.569+92A= ENSP00000447128.1:n.569+92A=
ENST00000548123.1:c.300+545A=
ENST00000548486.1:n.671A=
ENST00000550412.5:c.*333A= ENSP00000447650.1:n.*333A=
ENST00000550608.1:n.800A=
ENST00000551946.5:c.*464A= ENSP00000450201.1:n.*464A=
ENST00000553160.1:n.406-156A=
NM_001199771.1:c.569+92A= NP_001186700.1:n.569+92A=
NM_002905.3:c.569+92A= NP_002896.2:n.569+92A=
NR_037658.1:n.628+92A=
NM_001199771.2:c.569+92A= NP_001186700.1:n.569+92A=
NM_002905.5:c.569+92A= MANE Select NP_002896.2:n.569+92A=
NM_001199771.3:c.569+92A= NP_001186700.1:n.569+92A=