Canonical Allele Identifier: CA237593826

Gene: RDH5

Linked Data

• dbSNP Id: rs763202232
• MyVariant Identifiers: chr12:g.56115778_56115780del (hg19) ; chr12:g.55721994_55721996del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721997_55721999del , CM000674.2:g.55721997_55721999del	GRCh38
NC_000012.11:g.56115781_56115783del , CM000674.1:g.56115781_56115783del	GRCh37
NC_000012.10:g.54402048_54402050del	NCBI36
NG_008606.1:g.6631_6633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.569+50_569+52del MANE Select	ENSP00000257895.6:n.569+50_569+52del
ENST00000257895.9:c.569+50_569+52del	ENSP00000257895.5:n.569+50_569+52del
ENST00000257899.3:c.591+43_591+45del
ENST00000547072.5:c.278+50_278+52del	ENSP00000449927.1:n.278+50_278+52del
ENST00000548082.1:c.569+50_569+52del	ENSP00000447128.1:n.569+50_569+52del
ENST00000548123.1:c.300+503_300+505del
ENST00000548486.1:n.629_631del
ENST00000550412.5:c.*291_*293del	ENSP00000447650.1:n.*291_*293del
ENST00000550608.1:n.758_760del
ENST00000551946.5:c.*422_*424del	ENSP00000450201.1:n.*422_*424del
ENST00000553160.1:n.406-198_406-196del
NM_001199771.1:c.569+50_569+52del	NP_001186700.1:n.569+50_569+52del
NM_002905.3:c.569+50_569+52del	NP_002896.2:n.569+50_569+52del
NR_037658.1:n.628+50_628+52del
NM_001199771.2:c.569+50_569+52del	NP_001186700.1:n.569+50_569+52del
NM_002905.5:c.569+50_569+52del MANE Select	NP_002896.2:n.569+50_569+52del
NM_001199771.3:c.569+50_569+52del	NP_001186700.1:n.569+50_569+52del