The ASL gene homepage

General information
Gene symbol ASL
Gene name argininosuccinate lyase
Chromosome 7
Chromosomal band q11.21
Imprinted Unknown
Genomic reference NG_009288.1
Transcript reference NM_000048.3
Exon/intron information NM_000048.3 exon/intron table
Associated with diseases ID, argininosuccinic aciduria
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Johan den Dunnen and Global Variome, with Curator vacancy
Total number of public variants reported 128
Unique public DNA variants reported 50
Individuals with public variants 133
Hidden variants 3
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 20, 2009
Date last updated September 17, 2021
Version ASL:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000048.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 746
Entrez Gene 435
PubMed articles ASL
OMIM - Gene 608310
OMIM - Diseases argininosuccinic aciduria
GeneCards ASL
GeneTests ASL
Orphanet ASL

Active transcripts




NCBI ID     

NCBI Protein ID     

00002982 7 transcript variant 2 NM_000048.3 NP_000039.2 128

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