Canonical Allele Identifier: CA480155913

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115666G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721882G>T , CM000674.2:g.55721882G>T	GRCh38
NC_000012.11:g.56115666G>T , CM000674.1:g.56115666G>T	GRCh37
NC_000012.10:g.54401933G>T	NCBI36
NG_008606.1:g.6516G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.504G>T MANE Select	ENSP00000257895.6:p.Leu168=
ENST00000257895.9:c.504G>T	ENSP00000257895.5:p.Leu168=
ENST00000257899.3:c.519G>T
ENST00000547072.5:c.213G>T	ENSP00000449927.1:p.Leu71=
ENST00000548082.1:c.504G>T	ENSP00000447128.1:p.Leu168=
ENST00000548123.1:c.300+388G>T
ENST00000548486.1:n.514G>T
ENST00000550412.5:c.*176G>T	ENSP00000447650.1:n.*176G>T
ENST00000550608.1:n.643G>T
ENST00000551946.5:c.*307G>T	ENSP00000450201.1:n.*307G>T
ENST00000553160.1:n.406-313G>T
ENST00000553187.5:n.514G>T
NM_001199771.1:c.504G>T	NP_001186700.1:p.Leu168=
NM_002905.3:c.504G>T	NP_002896.2:p.Leu168=
NR_037658.1:n.563G>T
NM_001199771.2:c.504G>T	NP_001186700.1:p.Leu168=
NM_002905.5:c.504G>T MANE Select	NP_002896.2:p.Leu168=
NM_001199771.3:c.504G>T	NP_001186700.1:p.Leu168=