Canonical Allele Identifier: CA119208

Gene: RDH5

Linked Data

• ClinVar Variation Id: 8009
• ClinVar RCV Id: RCV000008473 ; RCV000522993
• dbSNP Id: rs267607006
• MyVariant Identifiers: chr12:g.56118300delinsGAAG (hg19) ; chr12:g.55724516delinsGAAG (hg38)
• PubMed: PMID:11812441

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55724516delinsGAAG , CM000674.2:g.55724516delinsGAAG	GRCh38
NC_000012.11:g.56118300delinsGAAG , CM000674.1:g.56118300delinsGAAG	GRCh37
NC_000012.10:g.54404567delinsGAAG	NCBI36
NG_008347.1:g.9611delinsCTTC
NG_008606.1:g.9150delinsGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.928delinsGAAG MANE Select	ENSP00000257895.6:p.Leu310delinsGluVal
ENST00000257895.9:c.928delinsGAAG	ENSP00000257895.5:p.Leu310delinsGluVal
ENST00000257899.3:c.592-22delinsGAAG
ENST00000547072.5:c.637delinsGAAG	ENSP00000449927.1:p.Leu213delinsGluVal
ENST00000548082.1:c.928delinsGAAG	ENSP00000447128.1:p.Leu310delinsGluVal
ENST00000550412.5:c.*2810delinsGAAG	ENSP00000447650.1:n.*2810delinsGAAG
ENST00000551444.1:n.878delinsGAAG
NM_001199771.1:c.928delinsGAAG	NP_001186700.1:p.Leu310delinsGluVal
NM_002905.3:c.928delinsGAAG	NP_002896.2:p.Leu310delinsGluVal
NR_037658.1:n.987delinsGAAG
NM_001199771.2:c.928delinsGAAG	NP_001186700.1:p.Leu310delinsGluVal
NM_002905.5:c.928delinsGAAG MANE Select	NP_002896.2:p.Leu310delinsGluVal
NM_001199771.3:c.928delinsGAAG	NP_001186700.1:p.Leu310delinsGluVal