Canonical Allele Identifier: CA385201195

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115711G>C (hg19) ; chr12:g.55721927G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721927G>C , CM000674.2:g.55721927G>C	GRCh38
NC_000012.11:g.56115711G>C , CM000674.1:g.56115711G>C	GRCh37
NC_000012.10:g.54401978G>C	NCBI36
NG_008606.1:g.6561G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.549G>C MANE Select	ENSP00000257895.6:p.Glu183Asp
ENST00000257895.9:c.549G>C	ENSP00000257895.5:p.Glu183Asp
ENST00000257899.3:c.564G>C
ENST00000547072.5:c.258G>C	ENSP00000449927.1:p.Glu86Asp
ENST00000548082.1:c.549G>C	ENSP00000447128.1:p.Glu183Asp
ENST00000548123.1:c.300+433G>C
ENST00000548486.1:n.559G>C
ENST00000550412.5:c.*221G>C	ENSP00000447650.1:n.*221G>C
ENST00000550608.1:n.688G>C
ENST00000551946.5:c.*352G>C	ENSP00000450201.1:n.*352G>C
ENST00000553160.1:n.406-268G>C
ENST00000553187.5:n.559G>C
NM_001199771.1:c.549G>C	NP_001186700.1:p.Glu183Asp
NM_002905.3:c.549G>C	NP_002896.2:p.Glu183Asp
NR_037658.1:n.608G>C
NM_001199771.2:c.549G>C	NP_001186700.1:p.Glu183Asp
NM_002905.5:c.549G>C MANE Select	NP_002896.2:p.Glu183Asp
NM_001199771.3:c.549G>C	NP_001186700.1:p.Glu183Asp