Canonical Allele Identifier: CA6616813

Gene: RDH5

Linked Data

• ClinVar Variation Id: 959908
• ClinVar RCV Id: RCV001233342
• dbSNP Id: rs141098197
• ExAC: 12:56115502 G / A
• gnomAD v2: 12-56115502-G-A
• gnomAD v3: 12-55721718-G-A
• gnomAD v4: 12-55721718-G-A
• MyVariant Identifiers: chr12:g.56115502G>A (hg19) ; chr12:g.55721718G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721718G>A , CM000674.2:g.55721718G>A	GRCh38
NC_000012.11:g.56115502G>A , CM000674.1:g.56115502G>A	GRCh37
NC_000012.10:g.54401769G>A	NCBI36
NG_008606.1:g.6352G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.340G>A MANE Select	ENSP00000257895.6:p.Val114Met
ENST00000257895.9:c.340G>A	ENSP00000257895.5:p.Val114Met
ENST00000257899.3:c.355G>A
ENST00000547072.5:c.49G>A	ENSP00000449927.1:p.Val17Met
ENST00000547301.1:n.448G>A
ENST00000548082.1:c.340G>A	ENSP00000447128.1:p.Val114Met
ENST00000548123.1:c.300+224G>A
ENST00000548486.1:n.350G>A
ENST00000549424.1:c.*12G>A	ENSP00000447621.1:n.*12G>A
ENST00000550412.5:c.*12G>A	ENSP00000447650.1:n.*12G>A
ENST00000550608.1:n.479G>A
ENST00000551946.5:c.*143G>A	ENSP00000450201.1:n.*143G>A
ENST00000552930.5:c.49G>A	ENSP00000448014.1:p.Val17Met
ENST00000553160.1:n.406-477G>A
ENST00000553187.5:n.350G>A
NM_001199771.1:c.340G>A	NP_001186700.1:p.Val114Met
NM_002905.3:c.340G>A	NP_002896.2:p.Val114Met
NR_037658.1:n.399G>A
NM_001199771.2:c.340G>A	NP_001186700.1:p.Val114Met
NM_002905.5:c.340G>A MANE Select	NP_002896.2:p.Val114Met
NM_001199771.3:c.340G>A	NP_001186700.1:p.Val114Met