Canonical Allele Identifier: CA2038069549
Gene: RDH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55721979T= , CM000674.2:g.55721979T= GRCh38
NC_000012.11:g.56115763T= , CM000674.1:g.56115763T= GRCh37
NC_000012.10:g.54402030T= NCBI36
NG_008606.1:g.6613T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000257895.10:c.569+32T= MANE Select ENSP00000257895.6:n.569+32T=
ENST00000257895.9:c.569+32T= ENSP00000257895.5:n.569+32T=
ENST00000257899.3:c.591+25T=
ENST00000547072.5:c.278+32T= ENSP00000449927.1:n.278+32T=
ENST00000548082.1:c.569+32T= ENSP00000447128.1:n.569+32T=
ENST00000548123.1:c.300+485T=
ENST00000548486.1:n.611T=
ENST00000550412.5:c.*273T= ENSP00000447650.1:n.*273T=
ENST00000550608.1:n.740T=
ENST00000551946.5:c.*404T= ENSP00000450201.1:n.*404T=
ENST00000553160.1:n.406-216T=
ENST00000553187.5:n.611T=
NM_001199771.1:c.569+32T= NP_001186700.1:n.569+32T=
NM_002905.3:c.569+32T= NP_002896.2:n.569+32T=
NR_037658.1:n.628+32T=
NM_001199771.2:c.569+32T= NP_001186700.1:n.569+32T=
NM_002905.5:c.569+32T= MANE Select NP_002896.2:n.569+32T=
NM_001199771.3:c.569+32T= NP_001186700.1:n.569+32T=