Canonical Allele Identifier: CA2619204787

Gene: RDH5

Linked Data

• gnomAD v4: 12-55721970-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721970T>G , CM000674.2:g.55721970T>G	GRCh38
NC_000012.11:g.56115754T>G , CM000674.1:g.56115754T>G	GRCh37
NC_000012.10:g.54402021T>G	NCBI36
NG_008606.1:g.6604T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+23T>G MANE Select	ENSP00000257895.6:n.569+23T>G
ENST00000257895.9:c.569+23T>G	ENSP00000257895.5:n.569+23T>G
ENST00000257899.3:c.591+16T>G
ENST00000547072.5:c.278+23T>G	ENSP00000449927.1:n.278+23T>G
ENST00000548082.1:c.569+23T>G	ENSP00000447128.1:n.569+23T>G
ENST00000548123.1:c.300+476T>G
ENST00000548486.1:n.602T>G
ENST00000550412.5:c.*264T>G	ENSP00000447650.1:n.*264T>G
ENST00000550608.1:n.731T>G
ENST00000551946.5:c.*395T>G	ENSP00000450201.1:n.*395T>G
ENST00000553160.1:n.406-225T>G
ENST00000553187.5:n.602T>G
NM_001199771.1:c.569+23T>G	NP_001186700.1:n.569+23T>G
NM_002905.3:c.569+23T>G	NP_002896.2:n.569+23T>G
NR_037658.1:n.628+23T>G
NM_001199771.2:c.569+23T>G	NP_001186700.1:n.569+23T>G
NM_002905.5:c.569+23T>G MANE Select	NP_002896.2:n.569+23T>G
NM_001199771.3:c.569+23T>G	NP_001186700.1:n.569+23T>G