Canonical Allele Identifier: CA2619208540

Gene: RDH5

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55724167G>A , CM000674.2:g.55724167G>A	GRCh38
NC_000012.11:g.56117951G>A , CM000674.1:g.56117951G>A	GRCh37
NC_000012.10:g.54404218G>A	NCBI36
NG_008347.1:g.9960C>T
NG_008606.1:g.8801G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.733+118G>A MANE Select	ENSP00000257895.6:n.733+118G>A
ENST00000257895.9:c.733+118G>A	ENSP00000257895.5:n.733+118G>A
ENST00000257899.3:c.592-371G>A
ENST00000547072.5:c.442+118G>A	ENSP00000449927.1:n.442+118G>A
ENST00000548082.1:c.733+118G>A	ENSP00000447128.1:n.733+118G>A
ENST00000548123.1:c.464+118G>A
ENST00000550412.5:c.*2461G>A	ENSP00000447650.1:n.*2461G>A
ENST00000551444.1:n.683+118G>A
NM_001199771.1:c.733+118G>A	NP_001186700.1:n.733+118G>A
NM_002905.3:c.733+118G>A	NP_002896.2:n.733+118G>A
NR_037658.1:n.792+118G>A
NM_001199771.2:c.733+118G>A	NP_001186700.1:n.733+118G>A
NM_002905.5:c.733+118G>A MANE Select	NP_002896.2:n.733+118G>A
NM_001199771.3:c.733+118G>A	NP_001186700.1:n.733+118G>A