Canonical Allele Identifier: CA385201267

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115731G>C (hg19) ; chr12:g.55721947G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721947G>C , CM000674.2:g.55721947G>C	GRCh38
NC_000012.11:g.56115731G>C , CM000674.1:g.56115731G>C	GRCh37
NC_000012.10:g.54401998G>C	NCBI36
NG_008606.1:g.6581G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569G>C MANE Select	ENSP00000257895.6:p.Arg190Thr
ENST00000257895.9:c.569G>C	ENSP00000257895.5:p.Arg190Thr
ENST00000257899.3:c.584G>C
ENST00000547072.5:c.278G>C	ENSP00000449927.1:p.Arg93Thr
ENST00000548082.1:c.569G>C	ENSP00000447128.1:p.Arg190Thr
ENST00000548123.1:c.300+453G>C
ENST00000548486.1:n.579G>C
ENST00000550412.5:c.*241G>C	ENSP00000447650.1:n.*241G>C
ENST00000550608.1:n.708G>C
ENST00000551946.5:c.*372G>C	ENSP00000450201.1:n.*372G>C
ENST00000553160.1:n.406-248G>C
ENST00000553187.5:n.579G>C
NM_001199771.1:c.569G>C	NP_001186700.1:p.Arg190Thr
NM_002905.3:c.569G>C	NP_002896.2:p.Arg190Thr
NR_037658.1:n.628G>C
NM_001199771.2:c.569G>C	NP_001186700.1:p.Arg190Thr
NM_002905.5:c.569G>C MANE Select	NP_002896.2:p.Arg190Thr
NM_001199771.3:c.569G>C	NP_001186700.1:p.Arg190Thr