Canonical Allele Identifier: CA385200527

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115480T>A (hg19) ; chr12:g.55721696T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721696T>A , CM000674.2:g.55721696T>A	GRCh38
NC_000012.11:g.56115480T>A , CM000674.1:g.56115480T>A	GRCh37
NC_000012.10:g.54401747T>A	NCBI36
NG_008606.1:g.6330T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.318T>A MANE Select	ENSP00000257895.6:p.Phe106Leu
ENST00000257895.9:c.318T>A	ENSP00000257895.5:p.Phe106Leu
ENST00000257899.3:c.333T>A
ENST00000547072.5:c.27T>A	ENSP00000449927.1:p.Phe9Leu
ENST00000547301.1:n.426T>A
ENST00000548082.1:c.318T>A	ENSP00000447128.1:p.Phe106Leu
ENST00000548123.1:c.300+202T>A
ENST00000548486.1:n.328T>A
ENST00000549424.1:c.125T>A	ENSP00000447621.1:p.Leu42Ter
ENST00000550412.5:c.359T>A	ENSP00000447650.1:p.Leu120Ter
ENST00000550608.1:n.457T>A
ENST00000551946.5:c.*121T>A	ENSP00000450201.1:n.*121T>A
ENST00000552930.5:c.27T>A	ENSP00000448014.1:p.Phe9Leu
ENST00000553160.1:n.406-499T>A
ENST00000553187.5:n.328T>A
NM_001199771.1:c.318T>A	NP_001186700.1:p.Phe106Leu
NM_002905.3:c.318T>A	NP_002896.2:p.Phe106Leu
NR_037658.1:n.377T>A
NM_001199771.2:c.318T>A	NP_001186700.1:p.Phe106Leu
NM_002905.5:c.318T>A MANE Select	NP_002896.2:p.Phe106Leu
NM_001199771.3:c.318T>A	NP_001186700.1:p.Phe106Leu