Canonical Allele Identifier: CA385200888

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115607C>G (hg19) ; chr12:g.55721823C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721823C>G , CM000674.2:g.55721823C>G	GRCh38
NC_000012.11:g.56115607C>G , CM000674.1:g.56115607C>G	GRCh37
NC_000012.10:g.54401874C>G	NCBI36
NG_008606.1:g.6457C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.445C>G MANE Select	ENSP00000257895.6:p.Pro149Ala
ENST00000257895.9:c.445C>G	ENSP00000257895.5:p.Pro149Ala
ENST00000257899.3:c.460C>G
ENST00000547072.5:c.154C>G	ENSP00000449927.1:p.Pro52Ala
ENST00000547301.1:n.553C>G
ENST00000548082.1:c.445C>G	ENSP00000447128.1:p.Pro149Ala
ENST00000548123.1:c.300+329C>G
ENST00000548486.1:n.455C>G
ENST00000550412.5:c.*117C>G	ENSP00000447650.1:n.*117C>G
ENST00000550608.1:n.584C>G
ENST00000551946.5:c.*248C>G	ENSP00000450201.1:n.*248C>G
ENST00000552930.5:c.154C>G	ENSP00000448014.1:p.Pro52Ala
ENST00000553160.1:n.406-372C>G
ENST00000553187.5:n.455C>G
NM_001199771.1:c.445C>G	NP_001186700.1:p.Pro149Ala
NM_002905.3:c.445C>G	NP_002896.2:p.Pro149Ala
NR_037658.1:n.504C>G
NM_001199771.2:c.445C>G	NP_001186700.1:p.Pro149Ala
NM_002905.5:c.445C>G MANE Select	NP_002896.2:p.Pro149Ala
NM_001199771.3:c.445C>G	NP_001186700.1:p.Pro149Ala