ACY1 aminoacylase 1

Information
Symbol
ACY1
Type
protein-coding
Description
aminoacylase 1
Entrez Gene ID
95
Genome
hg19
Position
chr3:52,017,493-52,023,211
Genome
hg38
Position
chr3:51,983,477-51,989,195
MIM
104620 OMIM
HGNC
HGNC:177 HGNC
Ensembl
ENSG00000243989 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Likely pathogenic 0 8
Benign 0 30
Likely benign 0 100
Conflicting classifications of pathogenicity 0 20
Uncertain significance 0 136
Ranking
ClinVar
0
0
46
216
12
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 ACY-1
SYNONYM ACY1D
SYNONYM HEL-S-5
MIM 104620 OMIM
HGNC HGNC:177 HGNC
Ensembl ENSG00000243989 Ensembl
AllianceGenome HGNC:177
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000476854.5 hg38 chr3 51,983,443 51,989,197 5,755
ENST00000404366.7 hg38 chr3 51,983,477 51,989,195 5,719
ENST00000635797.1 hg38 chr3 51,983,535 51,989,174 5,640
ENST00000476351.5 hg38 chr3 51,983,443 51,989,197 5,755
ENST00000494103.5 hg38 chr3 51,983,443 51,989,197 5,755
ENST00000636358.2 hg38 chr3 51,983,535 51,989,197 5,663
ENST00000404366.7 hg19 chr3 52,017,493 52,023,211 5,719
ENST00000494103.5 hg19 chr3 52,017,459 52,023,213 5,755
ENST00000476854.5 hg19 chr3 52,017,459 52,023,213 5,755
ENST00000476351.5 hg19 chr3 52,017,459 52,023,213 5,755
ENST00000635797.1 hg19 chr3 52,017,551 52,023,190 5,640
ENST00000636358.2 hg19 chr3 52,017,551 52,023,213 5,663
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