Canonical Allele Identifier: CA385200964
Gene: RDH5 HGNC NCBI

Linked Data

dbSNP Id: rs1592521546

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55721851T>G , CM000674.2:g.55721851T>G GRCh38
NC_000012.11:g.56115635T>G , CM000674.1:g.56115635T>G GRCh37
NC_000012.10:g.54401902T>G NCBI36
NG_008606.1:g.6485T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000257895.10:c.473T>G MANE Select ENSP00000257895.6:p.Val158Gly
ENST00000257895.9:c.473T>G ENSP00000257895.5:p.Val158Gly
ENST00000257899.3:c.488T>G
ENST00000547072.5:c.182T>G ENSP00000449927.1:p.Val61Gly
ENST00000548082.1:c.473T>G ENSP00000447128.1:p.Val158Gly
ENST00000548123.1:c.300+357T>G
ENST00000548486.1:n.483T>G
ENST00000550412.5:c.*145T>G ENSP00000447650.1:n.*145T>G
ENST00000550608.1:n.612T>G
ENST00000551946.5:c.*276T>G ENSP00000450201.1:n.*276T>G
ENST00000553160.1:n.406-344T>G
ENST00000553187.5:n.483T>G
NM_001199771.1:c.473T>G NP_001186700.1:p.Val158Gly
NM_002905.3:c.473T>G NP_002896.2:p.Val158Gly
NR_037658.1:n.532T>G
NM_001199771.2:c.473T>G NP_001186700.1:p.Val158Gly
NM_002905.5:c.473T>G MANE Select NP_002896.2:p.Val158Gly
NM_001199771.3:c.473T>G NP_001186700.1:p.Val158Gly