Canonical Allele Identifier: CA385201165

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115701T>A (hg19) ; chr12:g.55721917T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721917T>A , CM000674.2:g.55721917T>A	GRCh38
NC_000012.11:g.56115701T>A , CM000674.1:g.56115701T>A	GRCh37
NC_000012.10:g.54401968T>A	NCBI36
NG_008606.1:g.6551T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000257895.10:c.539T>A MANE Select	ENSP00000257895.6:p.Phe180Tyr
ENST00000257895.9:c.539T>A	ENSP00000257895.5:p.Phe180Tyr
ENST00000257899.3:c.554T>A
ENST00000547072.5:c.248T>A	ENSP00000449927.1:p.Phe83Tyr
ENST00000548082.1:c.539T>A	ENSP00000447128.1:p.Phe180Tyr
ENST00000548123.1:c.300+423T>A
ENST00000548486.1:n.549T>A
ENST00000550412.5:c.*211T>A	ENSP00000447650.1:n.*211T>A
ENST00000550608.1:n.678T>A
ENST00000551946.5:c.*342T>A	ENSP00000450201.1:n.*342T>A
ENST00000553160.1:n.406-278T>A
ENST00000553187.5:n.549T>A
NM_001199771.1:c.539T>A	NP_001186700.1:p.Phe180Tyr
NM_002905.3:c.539T>A	NP_002896.2:p.Phe180Tyr
NR_037658.1:n.598T>A
NM_001199771.2:c.539T>A	NP_001186700.1:p.Phe180Tyr
NM_002905.5:c.539T>A MANE Select	NP_002896.2:p.Phe180Tyr
NM_001199771.3:c.539T>A	NP_001186700.1:p.Phe180Tyr