Canonical Allele Identifier: CA2573148798

Gene: RDH5

Linked Data

• ClinVar Variation Id: 1489574
• ClinVar RCV Id: RCV001980694
• dbSNP Id: rs2136139646

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721800_55721801delinsCT , CM000674.2:g.55721800_55721801delinsCT	GRCh38
NC_000012.11:g.56115584_56115585delinsCT , CM000674.1:g.56115584_56115585delinsCT	GRCh37
NC_000012.10:g.54401851_54401852delinsCT	NCBI36
NG_008606.1:g.6434_6435delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.422_423delinsCT MANE Select	ENSP00000257895.6:p.Ile141Thr
ENST00000257895.9:c.422_423delinsCT	ENSP00000257895.5:p.Ile141Thr
ENST00000257899.3:c.437_438delinsCT
ENST00000547072.5:c.131_132delinsCT	ENSP00000449927.1:p.Ile44Thr
ENST00000547301.1:n.530_531delinsCT
ENST00000548082.1:c.422_423delinsCT	ENSP00000447128.1:p.Ile141Thr
ENST00000548123.1:c.300+306_300+307delinsCT
ENST00000548486.1:n.432_433delinsCT
ENST00000550412.5:c.*94_*95delinsCT	ENSP00000447650.1:n.*94_*95delinsCT
ENST00000550608.1:n.561_562delinsCT
ENST00000551946.5:c.*225_*226delinsCT	ENSP00000450201.1:n.*225_*226delinsCT
ENST00000552930.5:c.131_132delinsCT	ENSP00000448014.1:p.Ile44Thr
ENST00000553160.1:n.406-395_406-394delinsCT
ENST00000553187.5:n.432_433delinsCT
NM_001199771.1:c.422_423delinsCT	NP_001186700.1:p.Ile141Thr
NM_002905.3:c.422_423delinsCT	NP_002896.2:p.Ile141Thr
NR_037658.1:n.481_482delinsCT
NM_001199771.2:c.422_423delinsCT	NP_001186700.1:p.Ile141Thr
NM_002905.5:c.422_423delinsCT MANE Select	NP_002896.2:p.Ile141Thr
NM_001199771.3:c.422_423delinsCT	NP_001186700.1:p.Ile141Thr