Canonical Allele Identifier: CA2739272093

Gene: RDH5

Linked Data

• ClinVar Variation Id: 2834187
• ClinVar RCV Id: RCV003694356

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721915del , CM000674.2:g.55721915del	GRCh38
NC_000012.11:g.56115699del , CM000674.1:g.56115699del	GRCh37
NC_000012.10:g.54401966del	NCBI36
NG_008606.1:g.6549del

Transcript Alleles

HGVS	Amino-acid change
ENST00000257895.10:c.537del MANE Select	ENSP00000257895.6:p.Lys179AsnfsTer11
ENST00000257895.9:c.537del	ENSP00000257895.5:p.Lys179AsnfsTer11
ENST00000257899.3:c.552del
ENST00000547072.5:c.246del	ENSP00000449927.1:p.Lys82AsnfsTer11
ENST00000548082.1:c.537del	ENSP00000447128.1:p.Lys179AsnfsTer11
ENST00000548123.1:c.300+421del
ENST00000548486.1:n.547del
ENST00000550412.5:c.*209del	ENSP00000447650.1:n.*209del
ENST00000550608.1:n.676del
ENST00000551946.5:c.*340del	ENSP00000450201.1:n.*340del
ENST00000553160.1:n.406-280del
ENST00000553187.5:n.547del
NM_001199771.1:c.537del	NP_001186700.1:p.Lys179AsnfsTer11
NM_002905.3:c.537del	NP_002896.2:p.Lys179AsnfsTer11
NR_037658.1:n.596del
NM_001199771.2:c.537del	NP_001186700.1:p.Lys179AsnfsTer11
NM_002905.5:c.537del MANE Select	NP_002896.2:p.Lys179AsnfsTer11
NM_001199771.3:c.537del	NP_001186700.1:p.Lys179AsnfsTer11