Canonical Allele Identifier: CA6616868

Gene: RDH5

Linked Data

• ClinVar Variation Id: 1293624
• ClinVar RCV Id: RCV001717747 ; RCV001794509
• dbSNP Id: rs3138141
• ExAC: 12:56115778 C / A
• gnomAD v2: 12-56115778-C-A
• gnomAD v3: 12-55721994-C-A
• gnomAD v4: 12-55721994-C-A
• MyVariant Identifiers: chr12:g.56115778C>A (hg19) ; chr12:g.55721994C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721994C>A , CM000674.2:g.55721994C>A	GRCh38
NC_000012.11:g.56115778C>A , CM000674.1:g.56115778C>A	GRCh37
NC_000012.10:g.54402045C>A	NCBI36
NG_008606.1:g.6628C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+47C>A MANE Select	ENSP00000257895.6:n.569+47C>A
ENST00000257895.9:c.569+47C>A	ENSP00000257895.5:n.569+47C>A
ENST00000257899.3:c.591+40C>A
ENST00000547072.5:c.278+47C>A	ENSP00000449927.1:n.278+47C>A
ENST00000548082.1:c.569+47C>A	ENSP00000447128.1:n.569+47C>A
ENST00000548123.1:c.300+500C>A
ENST00000548486.1:n.626C>A
ENST00000550412.5:c.*288C>A	ENSP00000447650.1:n.*288C>A
ENST00000550608.1:n.755C>A
ENST00000551946.5:c.*419C>A	ENSP00000450201.1:n.*419C>A
ENST00000553160.1:n.406-201C>A
NM_001199771.1:c.569+47C>A	NP_001186700.1:n.569+47C>A
NM_002905.3:c.569+47C>A	NP_002896.2:n.569+47C>A
NR_037658.1:n.628+47C>A
NM_001199771.2:c.569+47C>A	NP_001186700.1:n.569+47C>A
NM_002905.5:c.569+47C>A MANE Select	NP_002896.2:n.569+47C>A
NM_001199771.3:c.569+47C>A	NP_001186700.1:n.569+47C>A