Canonical Allele Identifier: CA2038069560
Gene: RDH5 HGNC NCBI

Linked Data

dbSNP Id: rs1876950727

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55722009A>G , CM000674.2:g.55722009A>G GRCh38
NC_000012.11:g.56115793A>G , CM000674.1:g.56115793A>G GRCh37
NC_000012.10:g.54402060A>G NCBI36
NG_008606.1:g.6643A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000257895.10:c.569+62A>G MANE Select ENSP00000257895.6:n.569+62A>G
ENST00000257895.9:c.569+62A>G ENSP00000257895.5:n.569+62A>G
ENST00000257899.3:c.591+55A>G
ENST00000547072.5:c.278+62A>G ENSP00000449927.1:n.278+62A>G
ENST00000548082.1:c.569+62A>G ENSP00000447128.1:n.569+62A>G
ENST00000548123.1:c.300+515A>G
ENST00000548486.1:n.641A>G
ENST00000550412.5:c.*303A>G ENSP00000447650.1:n.*303A>G
ENST00000550608.1:n.770A>G
ENST00000551946.5:c.*434A>G ENSP00000450201.1:n.*434A>G
ENST00000553160.1:n.406-186A>G
NM_001199771.1:c.569+62A>G NP_001186700.1:n.569+62A>G
NM_002905.3:c.569+62A>G NP_002896.2:n.569+62A>G
NR_037658.1:n.628+62A>G
NM_001199771.2:c.569+62A>G NP_001186700.1:n.569+62A>G
NM_002905.5:c.569+62A>G MANE Select NP_002896.2:n.569+62A>G
NM_001199771.3:c.569+62A>G NP_001186700.1:n.569+62A>G