ACACA acetyl-CoA carboxylase alpha

Information
Symbol
ACACA
Type
protein-coding
Description
acetyl-CoA carboxylase alpha
Entrez Gene ID
31
Genome
hg19
Position
chr17:35,441,927-35,766,927
Genome
hg38
Position
chr17:37,084,992-37,406,836
MIM
200350 OMIM
HGNC
HGNC:84 HGNC
Ensembl
ENSG00000278540 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 2
Benign 0 71
Likely benign 0 225
Conflicting classifications of pathogenicity 0 4
not provided 1 2
Uncertain significance 0 200
Ranking
ClinVar
0
0
54
428
10
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 ACAC
SYNONYM ACACAD
SYNONYM ACACalpha
SYNONYM ACC
SYNONYM ACC1
SYNONYM ACCA
SYNONYM ACCalpha
SYNONYM Acac1
SYNONYM hACC1
MIM 200350 OMIM
HGNC HGNC:84 HGNC
Ensembl ENSG00000278540 Ensembl
AllianceGenome HGNC:84
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000612895.4 hg38 chr17 37,084,994 37,299,767 214,774
ENST00000617649.4 hg38 chr17 37,086,817 37,299,767 212,951
ENST00000616317.5 hg38 chr17 37,084,992 37,406,836 321,845
ENST00000614438.1 hg38 chr17 37,328,645 37,330,399 1,755
ENST00000614428.4 hg38 chr17 37,084,994 37,359,116 274,123
ENST00000612895.4 hg19 chr17 35,441,929 35,656,692 214,764
ENST00000617649.4 hg19 chr17 35,443,752 35,656,692 212,941
ENST00000616317.5 hg19 chr17 35,441,927 35,766,927 325,001
ENST00000614428.4 hg19 chr17 35,441,929 35,716,059 274,131
ENST00000614438.1 hg19 chr17 35,685,584 35,687,339 1,756
Genome browser