Canonical Allele Identifier: CA385201254

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115728T>A (hg19) ; chr12:g.55721944T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721944T>A , CM000674.2:g.55721944T>A	GRCh38
NC_000012.11:g.56115728T>A , CM000674.1:g.56115728T>A	GRCh37
NC_000012.10:g.54401995T>A	NCBI36
NG_008606.1:g.6578T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.566T>A MANE Select	ENSP00000257895.6:p.Leu189Gln
ENST00000257895.9:c.566T>A	ENSP00000257895.5:p.Leu189Gln
ENST00000257899.3:c.581T>A
ENST00000547072.5:c.275T>A	ENSP00000449927.1:p.Leu92Gln
ENST00000548082.1:c.566T>A	ENSP00000447128.1:p.Leu189Gln
ENST00000548123.1:c.300+450T>A
ENST00000548486.1:n.576T>A
ENST00000550412.5:c.*238T>A	ENSP00000447650.1:n.*238T>A
ENST00000550608.1:n.705T>A
ENST00000551946.5:c.*369T>A	ENSP00000450201.1:n.*369T>A
ENST00000553160.1:n.406-251T>A
ENST00000553187.5:n.576T>A
NM_001199771.1:c.566T>A	NP_001186700.1:p.Leu189Gln
NM_002905.3:c.566T>A	NP_002896.2:p.Leu189Gln
NR_037658.1:n.625T>A
NM_001199771.2:c.566T>A	NP_001186700.1:p.Leu189Gln
NM_002905.5:c.566T>A MANE Select	NP_002896.2:p.Leu189Gln
NM_001199771.3:c.566T>A	NP_001186700.1:p.Leu189Gln