Canonical Allele Identifier: CA2038069361

Gene: RDH5

Linked Data

• dbSNP Id: rs1876922074

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721604_55721606del , CM000674.2:g.55721604_55721606del	GRCh38
NC_000012.11:g.56115388_56115390del , CM000674.1:g.56115388_56115390del	GRCh37
NC_000012.10:g.54401655_54401657del	NCBI36
NG_008606.1:g.6238_6240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.311-85_311-83del MANE Select	ENSP00000257895.6:n.311-85_311-83del
ENST00000257895.9:c.311-85_311-83del	ENSP00000257895.5:n.311-85_311-83del
ENST00000257899.3:c.326-85_326-83del
ENST00000547072.5:c.20-85_20-83del	ENSP00000449927.1:n.20-85_20-83del
ENST00000547301.1:n.334_336del
ENST00000548082.1:c.311-85_311-83del	ENSP00000447128.1:n.311-85_311-83del
ENST00000548123.1:c.300+110_300+112del
ENST00000548486.1:n.321-85_321-83del
ENST00000549424.1:c.118-85_118-83del	ENSP00000447621.1:n.118-85_118-83del
ENST00000550412.5:c.352-85_352-83del	ENSP00000447650.1:n.352-85_352-83del
ENST00000550608.1:n.450-85_450-83del
ENST00000551946.5:c.*114-85_*114-83del	ENSP00000450201.1:n.*114-85_*114-83del
ENST00000552930.5:c.20-85_20-83del	ENSP00000448014.1:n.20-85_20-83del
ENST00000553160.1:n.406-591_406-589del
ENST00000553187.5:n.321-85_321-83del
NM_001199771.1:c.311-85_311-83del	NP_001186700.1:n.311-85_311-83del
NM_002905.3:c.311-85_311-83del	NP_002896.2:n.311-85_311-83del
NR_037658.1:n.370-85_370-83del
NM_001199771.2:c.311-85_311-83del	NP_001186700.1:n.311-85_311-83del
NM_002905.5:c.311-85_311-83del MANE Select	NP_002896.2:n.311-85_311-83del
NM_001199771.3:c.311-85_311-83del	NP_001186700.1:n.311-85_311-83del