Canonical Allele Identifier: CA645594471

Gene: RDH5

Linked Data

• COSMIC: COSM1934998

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721899dup , CM000674.2:g.55721899dup	GRCh38
NC_000012.11:g.56115683dup , CM000674.1:g.56115683dup	GRCh37
NC_000012.10:g.54401950dup	NCBI36
NG_008606.1:g.6533dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.521dup MANE Select	ENSP00000257895.6:p.Tyr175LeufsTer13
ENST00000257895.9:c.521dup	ENSP00000257895.5:p.Tyr175LeufsTer13
ENST00000257899.3:c.536dup
ENST00000547072.5:c.230dup	ENSP00000449927.1:p.Tyr78LeufsTer13
ENST00000548082.1:c.521dup	ENSP00000447128.1:p.Tyr175LeufsTer13
ENST00000548123.1:c.300+405dup
ENST00000548486.1:n.531dup
ENST00000550412.5:c.*193dup	ENSP00000447650.1:n.*193dup
ENST00000550608.1:n.660dup
ENST00000551946.5:c.*324dup	ENSP00000450201.1:n.*324dup
ENST00000553160.1:n.406-296dup
ENST00000553187.5:n.531dup
NM_001199771.1:c.521dup	NP_001186700.1:p.Tyr175LeufsTer13
NM_002905.3:c.521dup	NP_002896.2:p.Tyr175LeufsTer13
NR_037658.1:n.580dup
NM_001199771.2:c.521dup	NP_001186700.1:p.Tyr175LeufsTer13
NM_002905.5:c.521dup MANE Select	NP_002896.2:p.Tyr175LeufsTer13
NM_001199771.3:c.521dup	NP_001186700.1:p.Tyr175LeufsTer13