Canonical Allele Identifier: CA2038069553
Gene: RDH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55721992C= , CM000674.2:g.55721992C= GRCh38
NC_000012.11:g.56115776C= , CM000674.1:g.56115776C= GRCh37
NC_000012.10:g.54402043C= NCBI36
NG_008606.1:g.6626C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000257895.10:c.569+45C= MANE Select ENSP00000257895.6:n.569+45C=
ENST00000257895.9:c.569+45C= ENSP00000257895.5:n.569+45C=
ENST00000257899.3:c.591+38C=
ENST00000547072.5:c.278+45C= ENSP00000449927.1:n.278+45C=
ENST00000548082.1:c.569+45C= ENSP00000447128.1:n.569+45C=
ENST00000548123.1:c.300+498C=
ENST00000548486.1:n.624C=
ENST00000550412.5:c.*286C= ENSP00000447650.1:n.*286C=
ENST00000550608.1:n.753C=
ENST00000551946.5:c.*417C= ENSP00000450201.1:n.*417C=
ENST00000553160.1:n.406-203C=
ENST00000553187.5:n.624C=
NM_001199771.1:c.569+45C= NP_001186700.1:n.569+45C=
NM_002905.3:c.569+45C= NP_002896.2:n.569+45C=
NR_037658.1:n.628+45C=
NM_001199771.2:c.569+45C= NP_001186700.1:n.569+45C=
NM_002905.5:c.569+45C= MANE Select NP_002896.2:n.569+45C=
NM_001199771.3:c.569+45C= NP_001186700.1:n.569+45C=