Canonical Allele Identifier: CA385201243

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115724A>C (hg19) ; chr12:g.55721940A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721940A>C , CM000674.2:g.55721940A>C	GRCh38
NC_000012.11:g.56115724A>C , CM000674.1:g.56115724A>C	GRCh37
NC_000012.10:g.54401991A>C	NCBI36
NG_008606.1:g.6574A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.562A>C MANE Select	ENSP00000257895.6:p.Ser188Arg
ENST00000257895.9:c.562A>C	ENSP00000257895.5:p.Ser188Arg
ENST00000257899.3:c.577A>C
ENST00000547072.5:c.271A>C	ENSP00000449927.1:p.Ser91Arg
ENST00000548082.1:c.562A>C	ENSP00000447128.1:p.Ser188Arg
ENST00000548123.1:c.300+446A>C
ENST00000548486.1:n.572A>C
ENST00000550412.5:c.*234A>C	ENSP00000447650.1:n.*234A>C
ENST00000550608.1:n.701A>C
ENST00000551946.5:c.*365A>C	ENSP00000450201.1:n.*365A>C
ENST00000553160.1:n.406-255A>C
ENST00000553187.5:n.572A>C
NM_001199771.1:c.562A>C	NP_001186700.1:p.Ser188Arg
NM_002905.3:c.562A>C	NP_002896.2:p.Ser188Arg
NR_037658.1:n.621A>C
NM_001199771.2:c.562A>C	NP_001186700.1:p.Ser188Arg
NM_002905.5:c.562A>C MANE Select	NP_002896.2:p.Ser188Arg
NM_001199771.3:c.562A>C	NP_001186700.1:p.Ser188Arg