Canonical Allele Identifier: CA2619204938

Gene: RDH5

Linked Data

• gnomAD v4: 12-55722031-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722031C>A , CM000674.2:g.55722031C>A	GRCh38
NC_000012.11:g.56115815C>A , CM000674.1:g.56115815C>A	GRCh37
NC_000012.10:g.54402082C>A	NCBI36
NG_008606.1:g.6665C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+84C>A MANE Select	ENSP00000257895.6:n.569+84C>A
ENST00000257895.9:c.569+84C>A	ENSP00000257895.5:n.569+84C>A
ENST00000257899.3:c.591+77C>A
ENST00000547072.5:c.278+84C>A	ENSP00000449927.1:n.278+84C>A
ENST00000548082.1:c.569+84C>A	ENSP00000447128.1:n.569+84C>A
ENST00000548123.1:c.300+537C>A
ENST00000548486.1:n.663C>A
ENST00000550412.5:c.*325C>A	ENSP00000447650.1:n.*325C>A
ENST00000550608.1:n.792C>A
ENST00000551946.5:c.*456C>A	ENSP00000450201.1:n.*456C>A
ENST00000553160.1:n.406-164C>A
NM_001199771.1:c.569+84C>A	NP_001186700.1:n.569+84C>A
NM_002905.3:c.569+84C>A	NP_002896.2:n.569+84C>A
NR_037658.1:n.628+84C>A
NM_001199771.2:c.569+84C>A	NP_001186700.1:n.569+84C>A
NM_002905.5:c.569+84C>A MANE Select	NP_002896.2:n.569+84C>A
NM_001199771.3:c.569+84C>A	NP_001186700.1:n.569+84C>A