GANAB glucosidase II alpha subunit

Information
Symbol
GANAB
Type
protein-coding
Description
glucosidase II alpha subunit
Entrez Gene ID
23193
Genome
hg19
Position
chr11:62,392,298-62,414,087
Genome
hg38
Position
chr11:62,624,826-62,646,615
MIM
104160 OMIM
HGNC
HGNC:4138 HGNC
Ensembl
ENSG00000089597 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 34
Likely pathogenic 0 32
Benign 0 92
Likely benign 0 238
Conflicting classifications of pathogenicity 0 28
Uncertain significance 0 302
Ranking
ClinVar
0
0
112
512
36
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM G2AN
SYNONYM GIIA
SYNONYM GIIalpha
SYNONYM GLUII
SYNONYM PKD3
MIM 104160 OMIM
HGNC HGNC:4138 HGNC
Ensembl ENSG00000089597 Ensembl
AllianceGenome HGNC:4138
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000356638.8 hg38 chr11 62,624,829 62,646,613 21,785
ENST00000648273.1 hg38 chr11 62,624,951 62,646,606 21,656
ENST00000534779.5 hg38 chr11 62,625,781 62,646,632 20,852
ENST00000346178.8 hg38 chr11 62,624,826 62,646,615 21,790
ENST00000540933.5 hg38 chr11 62,624,832 62,646,726 21,895
ENST00000346178.8 hg19 chr11 62,392,298 62,414,087 21,790
ENST00000356638.8 hg19 chr11 62,392,301 62,414,085 21,785
ENST00000534779.5 hg19 chr11 62,393,253 62,414,104 20,852
ENST00000540933.5 hg19 chr11 62,392,304 62,414,198 21,895
ENST00000648273.1 hg19 chr11 62,392,423 62,414,078 21,656
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