Canonical Allele Identifier: CA385200532

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115481G>A (hg19) ; chr12:g.55721697G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721697G>A , CM000674.2:g.55721697G>A	GRCh38
NC_000012.11:g.56115481G>A , CM000674.1:g.56115481G>A	GRCh37
NC_000012.10:g.54401748G>A	NCBI36
NG_008606.1:g.6331G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.319G>A MANE Select	ENSP00000257895.6:p.Gly107Ser
ENST00000257895.9:c.319G>A	ENSP00000257895.5:p.Gly107Ser
ENST00000257899.3:c.334G>A
ENST00000547072.5:c.28G>A	ENSP00000449927.1:p.Gly10Ser
ENST00000547301.1:n.427G>A
ENST00000548082.1:c.319G>A	ENSP00000447128.1:p.Gly107Ser
ENST00000548123.1:c.300+203G>A
ENST00000548486.1:n.329G>A
ENST00000549424.1:c.126G>A	ENSP00000447621.1:p.Leu42=
ENST00000550412.5:c.360G>A	ENSP00000447650.1:p.Leu120=
ENST00000550608.1:n.458G>A
ENST00000551946.5:c.*122G>A	ENSP00000450201.1:n.*122G>A
ENST00000552930.5:c.28G>A	ENSP00000448014.1:p.Gly10Ser
ENST00000553160.1:n.406-498G>A
ENST00000553187.5:n.329G>A
NM_001199771.1:c.319G>A	NP_001186700.1:p.Gly107Ser
NM_002905.3:c.319G>A	NP_002896.2:p.Gly107Ser
NR_037658.1:n.378G>A
NM_001199771.2:c.319G>A	NP_001186700.1:p.Gly107Ser
NM_002905.5:c.319G>A MANE Select	NP_002896.2:p.Gly107Ser
NM_001199771.3:c.319G>A	NP_001186700.1:p.Gly107Ser