Canonical Allele Identifier: CA480155543

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115612G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721828G>A , CM000674.2:g.55721828G>A	GRCh38
NC_000012.11:g.56115612G>A , CM000674.1:g.56115612G>A	GRCh37
NC_000012.10:g.54401879G>A	NCBI36
NG_008606.1:g.6462G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.450G>A MANE Select	ENSP00000257895.6:p.Leu150=
ENST00000257895.9:c.450G>A	ENSP00000257895.5:p.Leu150=
ENST00000257899.3:c.465G>A
ENST00000547072.5:c.159G>A	ENSP00000449927.1:p.Leu53=
ENST00000547301.1:n.558G>A
ENST00000548082.1:c.450G>A	ENSP00000447128.1:p.Leu150=
ENST00000548123.1:c.300+334G>A
ENST00000548486.1:n.460G>A
ENST00000550412.5:c.*122G>A	ENSP00000447650.1:n.*122G>A
ENST00000550608.1:n.589G>A
ENST00000551946.5:c.*253G>A	ENSP00000450201.1:n.*253G>A
ENST00000552930.5:c.159G>A	ENSP00000448014.1:p.Leu53=
ENST00000553160.1:n.406-367G>A
ENST00000553187.5:n.460G>A
NM_001199771.1:c.450G>A	NP_001186700.1:p.Leu150=
NM_002905.3:c.450G>A	NP_002896.2:p.Leu150=
NR_037658.1:n.509G>A
NM_001199771.2:c.450G>A	NP_001186700.1:p.Leu150=
NM_002905.5:c.450G>A MANE Select	NP_002896.2:p.Leu150=
NM_001199771.3:c.450G>A	NP_001186700.1:p.Leu150=