Canonical Allele Identifier: CA480155664

Gene: RDH5

Linked Data

• dbSNP Id: rs104894374
• gnomAD v2: 12-56115631-C-A
• gnomAD v4: 12-55721847-C-A
• MyVariant Identifiers: chr12:g.56115631C>A (hg19) ; chr12:g.55721847C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721847C>A , CM000674.2:g.55721847C>A	GRCh38
NC_000012.11:g.56115631C>A , CM000674.1:g.56115631C>A	GRCh37
NC_000012.10:g.54401898C>A	NCBI36
NG_008606.1:g.6481C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000257895.10:c.469C>A MANE Select	ENSP00000257895.6:p.Arg157=
ENST00000257895.9:c.469C>A	ENSP00000257895.5:p.Arg157=
ENST00000257899.3:c.484C>A
ENST00000547072.5:c.178C>A	ENSP00000449927.1:p.Arg60=
ENST00000548082.1:c.469C>A	ENSP00000447128.1:p.Arg157=
ENST00000548123.1:c.300+353C>A
ENST00000548486.1:n.479C>A
ENST00000550412.5:c.*141C>A	ENSP00000447650.1:n.*141C>A
ENST00000550608.1:n.608C>A
ENST00000551946.5:c.*272C>A	ENSP00000450201.1:n.*272C>A
ENST00000553160.1:n.406-348C>A
ENST00000553187.5:n.479C>A
NM_001199771.1:c.469C>A	NP_001186700.1:p.Arg157=
NM_002905.3:c.469C>A	NP_002896.2:p.Arg157=
NR_037658.1:n.528C>A
NM_001199771.2:c.469C>A	NP_001186700.1:p.Arg157=
NM_002905.5:c.469C>A MANE Select	NP_002896.2:p.Arg157=
NM_001199771.3:c.469C>A	NP_001186700.1:p.Arg157=