Canonical Allele Identifier: CA6616848

Gene: RDH5

Linked Data

• ClinVar Variation Id: 309813
• ClinVar RCV Id: RCV000307352 ; RCV000947461
• dbSNP Id: rs61733970
• ExAC: 12:56115643 A / G
• gnomAD v2: 12-56115643-A-G
• gnomAD v3: 12-55721859-A-G
• gnomAD v4: 12-55721859-A-G
• MyVariant Identifiers: chr12:g.56115643A>G (hg19) ; chr12:g.55721859A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721859A>G , CM000674.2:g.55721859A>G	GRCh38
NC_000012.11:g.56115643A>G , CM000674.1:g.56115643A>G	GRCh37
NC_000012.10:g.54401910A>G	NCBI36
NG_008606.1:g.6493A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.481A>G MANE Select	ENSP00000257895.6:p.Ile161Val
ENST00000257895.9:c.481A>G	ENSP00000257895.5:p.Ile161Val
ENST00000257899.3:c.496A>G
ENST00000547072.5:c.190A>G	ENSP00000449927.1:p.Ile64Val
ENST00000548082.1:c.481A>G	ENSP00000447128.1:p.Ile161Val
ENST00000548123.1:c.300+365A>G
ENST00000548486.1:n.491A>G
ENST00000550412.5:c.*153A>G	ENSP00000447650.1:n.*153A>G
ENST00000550608.1:n.620A>G
ENST00000551946.5:c.*284A>G	ENSP00000450201.1:n.*284A>G
ENST00000553160.1:n.406-336A>G
ENST00000553187.5:n.491A>G
NM_001199771.1:c.481A>G	NP_001186700.1:p.Ile161Val
NM_002905.3:c.481A>G	NP_002896.2:p.Ile161Val
NR_037658.1:n.540A>G
NM_001199771.2:c.481A>G	NP_001186700.1:p.Ile161Val
NM_002905.5:c.481A>G MANE Select	NP_002896.2:p.Ile161Val
NM_001199771.3:c.481A>G	NP_001186700.1:p.Ile161Val