Canonical Allele Identifier: CA480155452

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115597T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721813T>A , CM000674.2:g.55721813T>A	GRCh38
NC_000012.11:g.56115597T>A , CM000674.1:g.56115597T>A	GRCh37
NC_000012.10:g.54401864T>A	NCBI36
NG_008606.1:g.6447T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.435T>A MANE Select	ENSP00000257895.6:p.Leu145=
ENST00000257895.9:c.435T>A	ENSP00000257895.5:p.Leu145=
ENST00000257899.3:c.450T>A
ENST00000547072.5:c.144T>A	ENSP00000449927.1:p.Leu48=
ENST00000547301.1:n.543T>A
ENST00000548082.1:c.435T>A	ENSP00000447128.1:p.Leu145=
ENST00000548123.1:c.300+319T>A
ENST00000548486.1:n.445T>A
ENST00000550412.5:c.*107T>A	ENSP00000447650.1:n.*107T>A
ENST00000550608.1:n.574T>A
ENST00000551946.5:c.*238T>A	ENSP00000450201.1:n.*238T>A
ENST00000552930.5:c.144T>A	ENSP00000448014.1:p.Leu48=
ENST00000553160.1:n.406-382T>A
ENST00000553187.5:n.445T>A
NM_001199771.1:c.435T>A	NP_001186700.1:p.Leu145=
NM_002905.3:c.435T>A	NP_002896.2:p.Leu145=
NR_037658.1:n.494T>A
NM_001199771.2:c.435T>A	NP_001186700.1:p.Leu145=
NM_002905.5:c.435T>A MANE Select	NP_002896.2:p.Leu145=
NM_001199771.3:c.435T>A	NP_001186700.1:p.Leu145=