Canonical Allele Identifier: CA119196

Gene: RDH5

Linked Data

• ClinVar Variation Id: 8003
• ClinVar RCV Id: RCV000008467 ; RCV000597673 ; RCV000988861 ; RCV002251890 ; RCV003324486 ; RCV003390658
• dbSNP Id: rs62638191
• ExAC: 12:56117812 G / T
• gnomAD v2: 12-56117812-G-T
• gnomAD v3: 12-55724028-G-T
• gnomAD v4: 12-55724028-G-T
• MyVariant Identifiers: chr12:g.56117812G>T (hg19) ; chr12:g.55724028G>T (hg38)
• PubMed: PMID:10369264 ; PMID:10617778 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55724028G>T , CM000674.2:g.55724028G>T	GRCh38
NC_000012.11:g.56117812G>T , CM000674.1:g.56117812G>T	GRCh37
NC_000012.10:g.54404079G>T	NCBI36
NG_008347.1:g.10099C>A
NG_008606.1:g.8662G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257895.10:c.712G>T MANE Select	ENSP00000257895.6:p.Gly238Trp
ENST00000257895.9:c.712G>T	ENSP00000257895.5:p.Gly238Trp
ENST00000257899.3:c.592-510G>T
ENST00000547072.5:c.421G>T	ENSP00000449927.1:p.Gly141Trp
ENST00000548082.1:c.712G>T	ENSP00000447128.1:p.Gly238Trp
ENST00000548123.1:c.443G>T
ENST00000550412.5:c.*2322G>T	ENSP00000447650.1:n.*2322G>T
ENST00000551444.1:n.662G>T
NM_001199771.1:c.712G>T	NP_001186700.1:p.Gly238Trp
NM_002905.3:c.712G>T	NP_002896.2:p.Gly238Trp
NR_037658.1:n.771G>T
NM_001199771.2:c.712G>T	NP_001186700.1:p.Gly238Trp
NM_002905.5:c.712G>T MANE Select	NP_002896.2:p.Gly238Trp
NM_001199771.3:c.712G>T	NP_001186700.1:p.Gly238Trp