CTSA cathepsin A

Information
Symbol
CTSA
Type
protein-coding
Description
cathepsin A
Entrez Gene ID
5476
Genome
hg19
Position
chr20:44,520,025-44,527,459
Genome
hg38
Position
chr20:45,891,386-45,898,820
MIM
613111 OMIM
HGNC
HGNC:9251 HGNC
Ensembl
ENSG00000064601 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 94
Likely pathogenic 0 44
Benign 0 58
Likely benign 0 566
Conflicting classifications of pathogenicity 0 24
not provided 1 0
Uncertain significance 0 330
Ranking
ClinVar
0
0
90
960
18
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 GLB2
SYNONYM GSL
SYNONYM NGBE
SYNONYM PPCA
SYNONYM PPGB
MIM 613111 OMIM
HGNC HGNC:9251 HGNC
Ensembl ENSG00000064601 Ensembl
AllianceGenome HGNC:9251
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000607482.6 hg38 chr20 45,891,376 45,898,820 7,445
ENST00000372484.8 hg38 chr20 45,890,254 45,898,820 8,567
ENST00000354880.9 hg38 chr20 45,891,322 45,898,820 7,499
ENST00000191018.9 hg38 chr20 45,891,341 45,898,820 7,480
ENST00000678443.1 hg38 chr20 45,891,569 45,898,794 7,226
ENST00000372459.7 hg38 chr20 45,891,386 45,898,820 7,435
ENST00000646241.3 hg38 chr20 45,891,335 45,898,820 7,486
ENST00000677394.1 hg38 chr20 45,890,299 45,898,801 8,503
ENST00000419493.3 hg38 chr20 45,891,354 45,895,807 4,454
ENST00000372484.8 hg19 chr20 44,518,893 44,527,459 8,567
ENST00000419493.3 hg19 chr20 44,519,993 44,524,446 4,454
ENST00000191018.9 hg19 chr20 44,519,980 44,527,459 7,480
ENST00000354880.9 hg19 chr20 44,519,961 44,527,459 7,499
ENST00000607482.6 hg19 chr20 44,520,015 44,527,459 7,445
ENST00000372459.7 hg19 chr20 44,520,025 44,527,459 7,435
ENST00000678443.1 hg19 chr20 44,520,208 44,527,433 7,226
ENST00000677394.1 hg19 chr20 44,518,938 44,527,440 8,503
ENST00000646241.3 hg19 chr20 44,519,974 44,527,459 7,486
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