Canonical Allele Identifier: CA385200617

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115506C>A (hg19) ; chr12:g.55721722C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721722C>A , CM000674.2:g.55721722C>A	GRCh38
NC_000012.11:g.56115506C>A , CM000674.1:g.56115506C>A	GRCh37
NC_000012.10:g.54401773C>A	NCBI36
NG_008606.1:g.6356C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.344C>A MANE Select	ENSP00000257895.6:p.Ala115Asp
ENST00000257895.9:c.344C>A	ENSP00000257895.5:p.Ala115Asp
ENST00000257899.3:c.359C>A
ENST00000547072.5:c.53C>A	ENSP00000449927.1:p.Ala18Asp
ENST00000547301.1:n.452C>A
ENST00000548082.1:c.344C>A	ENSP00000447128.1:p.Ala115Asp
ENST00000548123.1:c.300+228C>A
ENST00000548486.1:n.354C>A
ENST00000549424.1:c.*16C>A	ENSP00000447621.1:n.*16C>A
ENST00000550412.5:c.*16C>A	ENSP00000447650.1:n.*16C>A
ENST00000550608.1:n.483C>A
ENST00000551946.5:c.*147C>A	ENSP00000450201.1:n.*147C>A
ENST00000552930.5:c.53C>A	ENSP00000448014.1:p.Ala18Asp
ENST00000553160.1:n.406-473C>A
ENST00000553187.5:n.354C>A
NM_001199771.1:c.344C>A	NP_001186700.1:p.Ala115Asp
NM_002905.3:c.344C>A	NP_002896.2:p.Ala115Asp
NR_037658.1:n.403C>A
NM_001199771.2:c.344C>A	NP_001186700.1:p.Ala115Asp
NM_002905.5:c.344C>A MANE Select	NP_002896.2:p.Ala115Asp
NM_001199771.3:c.344C>A	NP_001186700.1:p.Ala115Asp