Canonical Allele Identifier: CA655136492

Gene: RDH5

Linked Data

• dbSNP Id: rs1876926413
• gnomAD v4: 12-55721659-AC-A
• COSMIC: COSN18736317 ; COSN18736420

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721664del , CM000674.2:g.55721664del	GRCh38
NC_000012.11:g.56115448del , CM000674.1:g.56115448del	GRCh37
NC_000012.10:g.54401715del	NCBI36
NG_008606.1:g.6298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.311-25del MANE Select	ENSP00000257895.6:n.311-25del
ENST00000257895.9:c.311-25del	ENSP00000257895.5:n.311-25del
ENST00000257899.3:c.326-25del
ENST00000547072.5:c.20-25del	ENSP00000449927.1:n.20-25del
ENST00000547301.1:n.394del
ENST00000548082.1:c.311-25del	ENSP00000447128.1:n.311-25del
ENST00000548123.1:c.300+170del
ENST00000548486.1:n.321-25del
ENST00000549424.1:c.118-25del	ENSP00000447621.1:n.118-25del
ENST00000550412.5:c.352-25del	ENSP00000447650.1:n.352-25del
ENST00000550608.1:n.450-25del
ENST00000551946.5:c.*114-25del	ENSP00000450201.1:n.*114-25del
ENST00000552930.5:c.20-25del	ENSP00000448014.1:n.20-25del
ENST00000553160.1:n.406-531del
ENST00000553187.5:n.321-25del
NM_001199771.1:c.311-25del	NP_001186700.1:n.311-25del
NM_002905.3:c.311-25del	NP_002896.2:n.311-25del
NR_037658.1:n.370-25del
NM_001199771.2:c.311-25del	NP_001186700.1:n.311-25del
NM_002905.5:c.311-25del MANE Select	NP_002896.2:n.311-25del
NM_001199771.3:c.311-25del	NP_001186700.1:n.311-25del