AARSD1 alanyl-tRNA synthetase domain containing 1

Information
Symbol
AARSD1
Type
protein-coding
Description
alanyl-tRNA synthetase domain containing 1
Entrez Gene ID
80755
Genome
hg19
Position
chr17:41,102,543-41,116,471
Genome
hg38
Position
chr17:42,950,526-42,964,454
MIM
613212 OMIM
HGNC
HGNC:28417 HGNC
Ensembl
ENSG00000266967 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 70
Ranking
ClinVar
0
0
0
74
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 AlaXp
MIM 613212 OMIM
HGNC HGNC:28417 HGNC
Ensembl ENSG00000266967 Ensembl
AllianceGenome HGNC:28417
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000427569.7 hg38 chr17 42,950,526 42,964,454 13,929
ENST00000427569.7 hg19 chr17 41,102,543 41,116,471 13,929
Genome browser