Canonical Allele Identifier: CA2038069507
Gene: RDH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55721902A= , CM000674.2:g.55721902A= GRCh38
NC_000012.11:g.56115686A= , CM000674.1:g.56115686A= GRCh37
NC_000012.10:g.54401953A= NCBI36
NG_008606.1:g.6536A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000257895.10:c.524A= MANE Select ENSP00000257895.6:p.Tyr175=
ENST00000257895.9:c.524A= ENSP00000257895.5:p.Tyr175=
ENST00000257899.3:c.539A=
ENST00000547072.5:c.233A= ENSP00000449927.1:p.Tyr78=
ENST00000548082.1:c.524A= ENSP00000447128.1:p.Tyr175=
ENST00000548123.1:c.300+408A=
ENST00000548486.1:n.534A=
ENST00000550412.5:c.*196A= ENSP00000447650.1:n.*196A=
ENST00000550608.1:n.663A=
ENST00000551946.5:c.*327A= ENSP00000450201.1:n.*327A=
ENST00000553160.1:n.406-293A=
ENST00000553187.5:n.534A=
NM_001199771.1:c.524A= NP_001186700.1:p.Tyr175=
NM_002905.3:c.524A= NP_002896.2:p.Tyr175=
NR_037658.1:n.583A=
NM_001199771.2:c.524A= NP_001186700.1:p.Tyr175=
NM_002905.5:c.524A= MANE Select NP_002896.2:p.Tyr175=
NM_001199771.3:c.524A= NP_001186700.1:p.Tyr175=