Canonical Allele Identifier: CA480154813

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115498T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721714T>C , CM000674.2:g.55721714T>C	GRCh38
NC_000012.11:g.56115498T>C , CM000674.1:g.56115498T>C	GRCh37
NC_000012.10:g.54401765T>C	NCBI36
NG_008606.1:g.6348T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.336T>C MANE Select	ENSP00000257895.6:p.Ala112=
ENST00000257895.9:c.336T>C	ENSP00000257895.5:p.Ala112=
ENST00000257899.3:c.351T>C
ENST00000547072.5:c.45T>C	ENSP00000449927.1:p.Ala15=
ENST00000547301.1:n.444T>C
ENST00000548082.1:c.336T>C	ENSP00000447128.1:p.Ala112=
ENST00000548123.1:c.300+220T>C
ENST00000548486.1:n.346T>C
ENST00000549424.1:c.*8T>C	ENSP00000447621.1:n.*8T>C
ENST00000550412.5:c.*8T>C	ENSP00000447650.1:n.*8T>C
ENST00000550608.1:n.475T>C
ENST00000551946.5:c.*139T>C	ENSP00000450201.1:n.*139T>C
ENST00000552930.5:c.45T>C	ENSP00000448014.1:p.Ala15=
ENST00000553160.1:n.406-481T>C
ENST00000553187.5:n.346T>C
NM_001199771.1:c.336T>C	NP_001186700.1:p.Ala112=
NM_002905.3:c.336T>C	NP_002896.2:p.Ala112=
NR_037658.1:n.395T>C
NM_001199771.2:c.336T>C	NP_001186700.1:p.Ala112=
NM_002905.5:c.336T>C MANE Select	NP_002896.2:p.Ala112=
NM_001199771.3:c.336T>C	NP_001186700.1:p.Ala112=