Canonical Allele Identifier: CA385201109

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115680G>C (hg19) ; chr12:g.55721896G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721896G>C , CM000674.2:g.55721896G>C	GRCh38
NC_000012.11:g.56115680G>C , CM000674.1:g.56115680G>C	GRCh37
NC_000012.10:g.54401947G>C	NCBI36
NG_008606.1:g.6530G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.518G>C MANE Select	ENSP00000257895.6:p.Gly173Ala
ENST00000257895.9:c.518G>C	ENSP00000257895.5:p.Gly173Ala
ENST00000257899.3:c.533G>C
ENST00000547072.5:c.227G>C	ENSP00000449927.1:p.Gly76Ala
ENST00000548082.1:c.518G>C	ENSP00000447128.1:p.Gly173Ala
ENST00000548123.1:c.300+402G>C
ENST00000548486.1:n.528G>C
ENST00000550412.5:c.*190G>C	ENSP00000447650.1:n.*190G>C
ENST00000550608.1:n.657G>C
ENST00000551946.5:c.*321G>C	ENSP00000450201.1:n.*321G>C
ENST00000553160.1:n.406-299G>C
ENST00000553187.5:n.528G>C
NM_001199771.1:c.518G>C	NP_001186700.1:p.Gly173Ala
NM_002905.3:c.518G>C	NP_002896.2:p.Gly173Ala
NR_037658.1:n.577G>C
NM_001199771.2:c.518G>C	NP_001186700.1:p.Gly173Ala
NM_002905.5:c.518G>C MANE Select	NP_002896.2:p.Gly173Ala
NM_001199771.3:c.518G>C	NP_001186700.1:p.Gly173Ala