Canonical Allele Identifier: CA655136495

Gene: RDH5

Linked Data

• COSMIC: COSN510366

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722013G>C , CM000674.2:g.55722013G>C	GRCh38
NC_000012.11:g.56115797G>C , CM000674.1:g.56115797G>C	GRCh37
NC_000012.10:g.54402064G>C	NCBI36
NG_008606.1:g.6647G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+66G>C MANE Select	ENSP00000257895.6:n.569+66G>C
ENST00000257895.9:c.569+66G>C	ENSP00000257895.5:n.569+66G>C
ENST00000257899.3:c.591+59G>C
ENST00000547072.5:c.278+66G>C	ENSP00000449927.1:n.278+66G>C
ENST00000548082.1:c.569+66G>C	ENSP00000447128.1:n.569+66G>C
ENST00000548123.1:c.300+519G>C
ENST00000548486.1:n.645G>C
ENST00000550412.5:c.*307G>C	ENSP00000447650.1:n.*307G>C
ENST00000550608.1:n.774G>C
ENST00000551946.5:c.*438G>C	ENSP00000450201.1:n.*438G>C
ENST00000553160.1:n.406-182G>C
NM_001199771.1:c.569+66G>C	NP_001186700.1:n.569+66G>C
NM_002905.3:c.569+66G>C	NP_002896.2:n.569+66G>C
NR_037658.1:n.628+66G>C
NM_001199771.2:c.569+66G>C	NP_001186700.1:n.569+66G>C
NM_002905.5:c.569+66G>C MANE Select	NP_002896.2:n.569+66G>C
NM_001199771.3:c.569+66G>C	NP_001186700.1:n.569+66G>C