Canonical Allele Identifier: CA385200685

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115531G>C (hg19) ; chr12:g.55721747G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721747G>C , CM000674.2:g.55721747G>C	GRCh38
NC_000012.11:g.56115531G>C , CM000674.1:g.56115531G>C	GRCh37
NC_000012.10:g.54401798G>C	NCBI36
NG_008606.1:g.6381G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.369G>C MANE Select	ENSP00000257895.6:p.Trp123Cys
ENST00000257895.9:c.369G>C	ENSP00000257895.5:p.Trp123Cys
ENST00000257899.3:c.384G>C
ENST00000547072.5:c.78G>C	ENSP00000449927.1:p.Trp26Cys
ENST00000547301.1:n.477G>C
ENST00000548082.1:c.369G>C	ENSP00000447128.1:p.Trp123Cys
ENST00000548123.1:c.300+253G>C
ENST00000548486.1:n.379G>C
ENST00000549424.1:c.*41G>C	ENSP00000447621.1:n.*41G>C
ENST00000550412.5:c.*41G>C	ENSP00000447650.1:n.*41G>C
ENST00000550608.1:n.508G>C
ENST00000551946.5:c.*172G>C	ENSP00000450201.1:n.*172G>C
ENST00000552930.5:c.78G>C	ENSP00000448014.1:p.Trp26Cys
ENST00000553160.1:n.406-448G>C
ENST00000553187.5:n.379G>C
NM_001199771.1:c.369G>C	NP_001186700.1:p.Trp123Cys
NM_002905.3:c.369G>C	NP_002896.2:p.Trp123Cys
NR_037658.1:n.428G>C
NM_001199771.2:c.369G>C	NP_001186700.1:p.Trp123Cys
NM_002905.5:c.369G>C MANE Select	NP_002896.2:p.Trp123Cys
NM_001199771.3:c.369G>C	NP_001186700.1:p.Trp123Cys