Canonical Allele Identifier: CA2619204916

Gene: RDH5

Linked Data

• gnomAD v4: 12-55722019-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55722019G>A , CM000674.2:g.55722019G>A	GRCh38
NC_000012.11:g.56115803G>A , CM000674.1:g.56115803G>A	GRCh37
NC_000012.10:g.54402070G>A	NCBI36
NG_008606.1:g.6653G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+72G>A MANE Select	ENSP00000257895.6:n.569+72G>A
ENST00000257895.9:c.569+72G>A	ENSP00000257895.5:n.569+72G>A
ENST00000257899.3:c.591+65G>A
ENST00000547072.5:c.278+72G>A	ENSP00000449927.1:n.278+72G>A
ENST00000548082.1:c.569+72G>A	ENSP00000447128.1:n.569+72G>A
ENST00000548123.1:c.300+525G>A
ENST00000548486.1:n.651G>A
ENST00000550412.5:c.*313G>A	ENSP00000447650.1:n.*313G>A
ENST00000550608.1:n.780G>A
ENST00000551946.5:c.*444G>A	ENSP00000450201.1:n.*444G>A
ENST00000553160.1:n.406-176G>A
NM_001199771.1:c.569+72G>A	NP_001186700.1:n.569+72G>A
NM_002905.3:c.569+72G>A	NP_002896.2:n.569+72G>A
NR_037658.1:n.628+72G>A
NM_001199771.2:c.569+72G>A	NP_001186700.1:n.569+72G>A
NM_002905.5:c.569+72G>A MANE Select	NP_002896.2:n.569+72G>A
NM_001199771.3:c.569+72G>A	NP_001186700.1:n.569+72G>A