NAT1 N-acetyltransferase 1

Information
Symbol
NAT1
Type
protein-coding
Description
N-acetyltransferase 1
Entrez Gene ID
9
Genome
hg19
Position
chr8:18,068,794-18,081,197
Genome
hg38
Position
chr8:18,211,285-18,223,688
MIM
108345 OMIM
HGNC
HGNC:7645 HGNC
Ensembl
ENSG00000171428 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 2
Uncertain significance 0 18
Ranking
ClinVar
0
0
0
24
0
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 AAC1
SYNONYM MNAT
SYNONYM NAT-1
SYNONYM NATI
MIM 108345 OMIM
HGNC HGNC:7645 HGNC
Ensembl ENSG00000171428 Ensembl
AllianceGenome HGNC:7645
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000518029.5 hg38 chr8 18,210,130 18,223,689 13,560
ENST00000307719.9 hg38 chr8 18,210,109 18,223,689 13,581
ENST00000545197.3 hg38 chr8 18,211,285 18,223,688 12,404
ENST00000520546.1 hg38 chr8 18,221,777 18,223,222 1,446
ENST00000517492.5 hg38 chr8 18,212,222 18,223,689 11,468
ENST00000307719.9 hg19 chr8 18,067,618 18,081,198 13,581
ENST00000518029.5 hg19 chr8 18,067,639 18,081,198 13,560
ENST00000545197.3 hg19 chr8 18,068,794 18,081,197 12,404
ENST00000517492.5 hg19 chr8 18,069,731 18,081,198 11,468
ENST00000520546.1 hg19 chr8 18,079,286 18,080,731 1,446
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