PSMA1 proteasome 20S subunit alpha 1

Information
Symbol
PSMA1
Type
protein-coding
Description
proteasome 20S subunit alpha 1
Entrez Gene ID
5682
Genome
hg19
Position
chr11:14,526,610-14,665,163
Genome
hg38
Position
chr11:14,505,064-14,643,617
MIM
602854 OMIM
HGNC
HGNC:9530 HGNC
Ensembl
ENSG00000129084 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Uncertain significance 0 14
Ranking
ClinVar
0
0
0
14
2
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 HC2
SYNONYM HEL-S-275
SYNONYM NU
SYNONYM PROS30
MIM 602854 OMIM
HGNC HGNC:9530 HGNC
Ensembl ENSG00000129084 Ensembl
AllianceGenome HGNC:9530
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000418988.2 hg38 chr11 14,505,064 14,643,617 138,554
ENST00000396394.7 hg38 chr11 14,504,876 14,520,386 15,511
ENST00000530457.5 hg38 chr11 14,504,913 14,520,363 15,451
ENST00000396394.7 hg19 chr11 14,526,422 14,541,932 15,511
ENST00000530457.5 hg19 chr11 14,526,459 14,541,909 15,451
ENST00000418988.2 hg19 chr11 14,526,610 14,665,163 138,554
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