Canonical Allele Identifier: CA690144758

Gene: RDH5

Linked Data

• ClinVar Variation Id: 2127750
• ClinVar RCV Id: RCV003055647
• dbSNP Id: rs1390835981
• gnomAD v4: 12-55721894-TG-T
• MyVariant Identifiers: chr12:g.56115679del (hg19) ; chr12:g.55721895del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721899del , CM000674.2:g.55721899del	GRCh38
NC_000012.11:g.56115683del , CM000674.1:g.56115683del	GRCh37
NC_000012.10:g.54401950del	NCBI36
NG_008606.1:g.6533del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.521del MANE Select	ENSP00000257895.6:p.Gly174AlafsTer16
ENST00000257895.9:c.521del	ENSP00000257895.5:p.Gly174AlafsTer16
ENST00000257899.3:c.536del
ENST00000547072.5:c.230del	ENSP00000449927.1:p.Gly77AlafsTer16
ENST00000548082.1:c.521del	ENSP00000447128.1:p.Gly174AlafsTer16
ENST00000548123.1:c.300+405del
ENST00000548486.1:n.531del
ENST00000550412.5:c.*193del	ENSP00000447650.1:n.*193del
ENST00000550608.1:n.660del
ENST00000551946.5:c.*324del	ENSP00000450201.1:n.*324del
ENST00000553160.1:n.406-296del
ENST00000553187.5:n.531del
NM_001199771.1:c.521del	NP_001186700.1:p.Gly174AlafsTer16
NM_002905.3:c.521del	NP_002896.2:p.Gly174AlafsTer16
NR_037658.1:n.580del
NM_001199771.2:c.521del	NP_001186700.1:p.Gly174AlafsTer16
NM_002905.5:c.521del MANE Select	NP_002896.2:p.Gly174AlafsTer16
NM_001199771.3:c.521del	NP_001186700.1:p.Gly174AlafsTer16