Canonical Allele Identifier: CA6616818

Gene: RDH5

Linked Data

• ClinVar Variation Id: 1000638
• ClinVar RCV Id: RCV001296794
• dbSNP Id: rs200207744
• ExAC: 12:56115516 C / G
• gnomAD v2: 12-56115516-C-G
• MyVariant Identifiers: chr12:g.56115516C>G (hg19) ; chr12:g.55721732C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721732C>G , CM000674.2:g.55721732C>G	GRCh38
NC_000012.11:g.56115516C>G , CM000674.1:g.56115516C>G	GRCh37
NC_000012.10:g.54401783C>G	NCBI36
NG_008606.1:g.6366C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.354C>G MANE Select	ENSP00000257895.6:p.Ile118Met
ENST00000257895.9:c.354C>G	ENSP00000257895.5:p.Ile118Met
ENST00000257899.3:c.369C>G
ENST00000547072.5:c.63C>G	ENSP00000449927.1:p.Ile21Met
ENST00000547301.1:n.462C>G
ENST00000548082.1:c.354C>G	ENSP00000447128.1:p.Ile118Met
ENST00000548123.1:c.300+238C>G
ENST00000548486.1:n.364C>G
ENST00000549424.1:c.*26C>G	ENSP00000447621.1:n.*26C>G
ENST00000550412.5:c.*26C>G	ENSP00000447650.1:n.*26C>G
ENST00000550608.1:n.493C>G
ENST00000551946.5:c.*157C>G	ENSP00000450201.1:n.*157C>G
ENST00000552930.5:c.63C>G	ENSP00000448014.1:p.Ile21Met
ENST00000553160.1:n.406-463C>G
ENST00000553187.5:n.364C>G
NM_001199771.1:c.354C>G	NP_001186700.1:p.Ile118Met
NM_002905.3:c.354C>G	NP_002896.2:p.Ile118Met
NR_037658.1:n.413C>G
NM_001199771.2:c.354C>G	NP_001186700.1:p.Ile118Met
NM_002905.5:c.354C>G MANE Select	NP_002896.2:p.Ile118Met
NM_001199771.3:c.354C>G	NP_001186700.1:p.Ile118Met