The ALG13 gene homepage

General information
Gene symbol ALG13
Gene name ALG13, UDP-N-acetylglucosaminyltransferase subunit
Chromosome X
Chromosomal band q23
Imprinted Unknown
Genomic reference NG_016238.1
Transcript reference NM_001099922.2, NM_001257230.1, NM_001257231.1, NM_001257234.1, NM_001257237.1
Associated with diseases CDG-1S, ID
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 14
Unique public DNA variants reported 7
Individuals with public variants 10
Hidden variants -
Date created November 30, -0001
Date last updated September 23, 2016
Version ALG13:160923

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:30881
Entrez Gene 79868
PubMed articles ALG13
OMIM - Gene 300776
OMIM - Diseases CDG-1S (glycosylation, congenital disorder of, type Is (CDG-1S))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00009933 X transcript variant 1 NM_001099922.2 NP_001093392.1 14
00009934 X transcript variant 5 NM_001257230.1 NP_001244159.1 14
00009935 X transcript variant 10 NM_001257237.1 NP_001244166.1 14
00009936 X transcript variant 7 NM_001257231.1 NP_001244160.1 14
00009937 X transcript variant 8 NM_001257234.1 NP_001244163.1 14