Canonical Allele Identifier: CA6616852

Gene: RDH5

Linked Data

• ClinVar Variation Id: 881795
• ClinVar RCV Id: RCV001111053
• dbSNP Id: rs754237316
• ExAC: 12:56115651 C / T
• gnomAD v2: 12-56115651-C-T
• gnomAD v4: 12-55721867-C-T
• MyVariant Identifiers: chr12:g.56115651C>T (hg19) ; chr12:g.55721867C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721867C>T , CM000674.2:g.55721867C>T	GRCh38
NC_000012.11:g.56115651C>T , CM000674.1:g.56115651C>T	GRCh37
NC_000012.10:g.54401918C>T	NCBI36
NG_008606.1:g.6501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.489C>T MANE Select	ENSP00000257895.6:p.Ser163=
ENST00000257895.9:c.489C>T	ENSP00000257895.5:p.Ser163=
ENST00000257899.3:c.504C>T
ENST00000547072.5:c.198C>T	ENSP00000449927.1:p.Ser66=
ENST00000548082.1:c.489C>T	ENSP00000447128.1:p.Ser163=
ENST00000548123.1:c.300+373C>T
ENST00000548486.1:n.499C>T
ENST00000550412.5:c.*161C>T	ENSP00000447650.1:n.*161C>T
ENST00000550608.1:n.628C>T
ENST00000551946.5:c.*292C>T	ENSP00000450201.1:n.*292C>T
ENST00000553160.1:n.406-328C>T
ENST00000553187.5:n.499C>T
NM_001199771.1:c.489C>T	NP_001186700.1:p.Ser163=
NM_002905.3:c.489C>T	NP_002896.2:p.Ser163=
NR_037658.1:n.548C>T
NM_001199771.2:c.489C>T	NP_001186700.1:p.Ser163=
NM_002905.5:c.489C>T MANE Select	NP_002896.2:p.Ser163=
NM_001199771.3:c.489C>T	NP_001186700.1:p.Ser163=