Canonical Allele Identifier: CA385201033

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115656T>G (hg19) ; chr12:g.55721872T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721872T>G , CM000674.2:g.55721872T>G	GRCh38
NC_000012.11:g.56115656T>G , CM000674.1:g.56115656T>G	GRCh37
NC_000012.10:g.54401923T>G	NCBI36
NG_008606.1:g.6506T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.494T>G MANE Select	ENSP00000257895.6:p.Leu165Arg
ENST00000257895.9:c.494T>G	ENSP00000257895.5:p.Leu165Arg
ENST00000257899.3:c.509T>G
ENST00000547072.5:c.203T>G	ENSP00000449927.1:p.Leu68Arg
ENST00000548082.1:c.494T>G	ENSP00000447128.1:p.Leu165Arg
ENST00000548123.1:c.300+378T>G
ENST00000548486.1:n.504T>G
ENST00000550412.5:c.*166T>G	ENSP00000447650.1:n.*166T>G
ENST00000550608.1:n.633T>G
ENST00000551946.5:c.*297T>G	ENSP00000450201.1:n.*297T>G
ENST00000553160.1:n.406-323T>G
ENST00000553187.5:n.504T>G
NM_001199771.1:c.494T>G	NP_001186700.1:p.Leu165Arg
NM_002905.3:c.494T>G	NP_002896.2:p.Leu165Arg
NR_037658.1:n.553T>G
NM_001199771.2:c.494T>G	NP_001186700.1:p.Leu165Arg
NM_002905.5:c.494T>G MANE Select	NP_002896.2:p.Leu165Arg
NM_001199771.3:c.494T>G	NP_001186700.1:p.Leu165Arg