Canonical Allele Identifier: CA237593744

Gene: RDH5

Linked Data

• dbSNP Id: rs998091666
• gnomAD v4: 12-55721865-A-G
• MyVariant Identifiers: chr12:g.56115649A>G (hg19) ; chr12:g.55721865A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721865A>G , CM000674.2:g.55721865A>G	GRCh38
NC_000012.11:g.56115649A>G , CM000674.1:g.56115649A>G	GRCh37
NC_000012.10:g.54401916A>G	NCBI36
NG_008606.1:g.6499A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.487A>G MANE Select	ENSP00000257895.6:p.Ser163Gly
ENST00000257895.9:c.487A>G	ENSP00000257895.5:p.Ser163Gly
ENST00000257899.3:c.502A>G
ENST00000547072.5:c.196A>G	ENSP00000449927.1:p.Ser66Gly
ENST00000548082.1:c.487A>G	ENSP00000447128.1:p.Ser163Gly
ENST00000548123.1:c.300+371A>G
ENST00000548486.1:n.497A>G
ENST00000550412.5:c.*159A>G	ENSP00000447650.1:n.*159A>G
ENST00000550608.1:n.626A>G
ENST00000551946.5:c.*290A>G	ENSP00000450201.1:n.*290A>G
ENST00000553160.1:n.406-330A>G
ENST00000553187.5:n.497A>G
NM_001199771.1:c.487A>G	NP_001186700.1:p.Ser163Gly
NM_002905.3:c.487A>G	NP_002896.2:p.Ser163Gly
NR_037658.1:n.546A>G
NM_001199771.2:c.487A>G	NP_001186700.1:p.Ser163Gly
NM_002905.5:c.487A>G MANE Select	NP_002896.2:p.Ser163Gly
NM_001199771.3:c.487A>G	NP_001186700.1:p.Ser163Gly