Canonical Allele Identifier: CA385200661

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115521C>G (hg19) ; chr12:g.55721737C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721737C>G , CM000674.2:g.55721737C>G	GRCh38
NC_000012.11:g.56115521C>G , CM000674.1:g.56115521C>G	GRCh37
NC_000012.10:g.54401788C>G	NCBI36
NG_008606.1:g.6371C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.359C>G MANE Select	ENSP00000257895.6:p.Pro120Arg
ENST00000257895.9:c.359C>G	ENSP00000257895.5:p.Pro120Arg
ENST00000257899.3:c.374C>G
ENST00000547072.5:c.68C>G	ENSP00000449927.1:p.Pro23Arg
ENST00000547301.1:n.467C>G
ENST00000548082.1:c.359C>G	ENSP00000447128.1:p.Pro120Arg
ENST00000548123.1:c.300+243C>G
ENST00000548486.1:n.369C>G
ENST00000549424.1:c.*31C>G	ENSP00000447621.1:n.*31C>G
ENST00000550412.5:c.*31C>G	ENSP00000447650.1:n.*31C>G
ENST00000550608.1:n.498C>G
ENST00000551946.5:c.*162C>G	ENSP00000450201.1:n.*162C>G
ENST00000552930.5:c.68C>G	ENSP00000448014.1:p.Pro23Arg
ENST00000553160.1:n.406-458C>G
ENST00000553187.5:n.369C>G
NM_001199771.1:c.359C>G	NP_001186700.1:p.Pro120Arg
NM_002905.3:c.359C>G	NP_002896.2:p.Pro120Arg
NR_037658.1:n.418C>G
NM_001199771.2:c.359C>G	NP_001186700.1:p.Pro120Arg
NM_002905.5:c.359C>G MANE Select	NP_002896.2:p.Pro120Arg
NM_001199771.3:c.359C>G	NP_001186700.1:p.Pro120Arg