HAL histidine ammonia-lyase

Information
Symbol
HAL
Type
protein-coding
Description
histidine ammonia-lyase
Entrez Gene ID
3034
Genome
hg19
Position
chr12:96,366,440-96,390,122
Genome
hg38
Position
chr12:95,972,662-95,996,344
MIM
609457 OMIM
HGNC
HGNC:4806 HGNC
Ensembl
ENSG00000084110 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 28
Likely benign 0 38
Affects 0 8
association 0 4
Conflicting classifications of pathogenicity 0 10
not provided 1 0
Uncertain significance 0 242
Uncertain significance; association 0 2
Ranking
ClinVar
0
0
22
288
8
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 HIS
SYNONYM HSTD
MIM 609457 OMIM
HGNC HGNC:4806 HGNC
Ensembl ENSG00000084110 Ensembl
AllianceGenome HGNC:4806
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000261208.8 hg38 chr12 95,972,662 95,996,344 23,683
ENST00000538703.5 hg38 chr12 95,973,847 95,996,344 22,498
ENST00000541929.5 hg38 chr12 95,972,662 95,996,365 23,704
ENST00000261208.8 hg19 chr12 96,366,440 96,390,122 23,683
ENST00000541929.5 hg19 chr12 96,366,440 96,390,143 23,704
ENST00000538703.5 hg19 chr12 96,367,625 96,390,122 22,498
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