Canonical Allele Identifier: CA385200705

Gene: RDH5

Linked Data

• dbSNP Id: rs1876932537
• gnomAD v4: 12-55721758-A-G
• MyVariant Identifiers: chr12:g.56115542A>G (hg19) ; chr12:g.55721758A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721758A>G , CM000674.2:g.55721758A>G	GRCh38
NC_000012.11:g.56115542A>G , CM000674.1:g.56115542A>G	GRCh37
NC_000012.10:g.54401809A>G	NCBI36
NG_008606.1:g.6392A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.380A>G MANE Select	ENSP00000257895.6:p.Asp127Gly
ENST00000257895.9:c.380A>G	ENSP00000257895.5:p.Asp127Gly
ENST00000257899.3:c.395A>G
ENST00000547072.5:c.89A>G	ENSP00000449927.1:p.Asp30Gly
ENST00000547301.1:n.488A>G
ENST00000548082.1:c.380A>G	ENSP00000447128.1:p.Asp127Gly
ENST00000548123.1:c.300+264A>G
ENST00000548486.1:n.390A>G
ENST00000549424.1:c.*52A>G	ENSP00000447621.1:n.*52A>G
ENST00000550412.5:c.*52A>G	ENSP00000447650.1:n.*52A>G
ENST00000550608.1:n.519A>G
ENST00000551946.5:c.*183A>G	ENSP00000450201.1:n.*183A>G
ENST00000552930.5:c.89A>G	ENSP00000448014.1:p.Asp30Gly
ENST00000553160.1:n.406-437A>G
ENST00000553187.5:n.390A>G
NM_001199771.1:c.380A>G	NP_001186700.1:p.Asp127Gly
NM_002905.3:c.380A>G	NP_002896.2:p.Asp127Gly
NR_037658.1:n.439A>G
NM_001199771.2:c.380A>G	NP_001186700.1:p.Asp127Gly
NM_002905.5:c.380A>G MANE Select	NP_002896.2:p.Asp127Gly
NM_001199771.3:c.380A>G	NP_001186700.1:p.Asp127Gly