Canonical Allele Identifier: CA6616861

Gene: RDH5

Linked Data

• ClinVar Variation Id: 236445
• ClinVar RCV Id: RCV000225623 ; RCV001854795
• dbSNP Id: rs781112960
• ExAC: 12:56115698 A / G
• gnomAD v2: 12-56115698-A-G
• gnomAD v3: 12-55721914-A-G
• gnomAD v4: 12-55721914-A-G
• MyVariant Identifiers: chr12:g.56115698A>G (hg19) ; chr12:g.55721914A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721914A>G , CM000674.2:g.55721914A>G	GRCh38
NC_000012.11:g.56115698A>G , CM000674.1:g.56115698A>G	GRCh37
NC_000012.10:g.54401965A>G	NCBI36
NG_008606.1:g.6548A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000257895.10:c.536A>G MANE Select	ENSP00000257895.6:p.Lys179Arg
ENST00000257895.9:c.536A>G	ENSP00000257895.5:p.Lys179Arg
ENST00000257899.3:c.551A>G
ENST00000547072.5:c.245A>G	ENSP00000449927.1:p.Lys82Arg
ENST00000548082.1:c.536A>G	ENSP00000447128.1:p.Lys179Arg
ENST00000548123.1:c.300+420A>G
ENST00000548486.1:n.546A>G
ENST00000550412.5:c.*208A>G	ENSP00000447650.1:n.*208A>G
ENST00000550608.1:n.675A>G
ENST00000551946.5:c.*339A>G	ENSP00000450201.1:n.*339A>G
ENST00000553160.1:n.406-281A>G
ENST00000553187.5:n.546A>G
NM_001199771.1:c.536A>G	NP_001186700.1:p.Lys179Arg
NM_002905.3:c.536A>G	NP_002896.2:p.Lys179Arg
NR_037658.1:n.595A>G
NM_001199771.2:c.536A>G	NP_001186700.1:p.Lys179Arg
NM_002905.5:c.536A>G MANE Select	NP_002896.2:p.Lys179Arg
NM_001199771.3:c.536A>G	NP_001186700.1:p.Lys179Arg