The HMBS gene homepage

General information
Gene symbol HMBS
Gene name hydroxymethylbilane synthase
Chromosome 11
Chromosomal band q23.3
Imprinted Unknown
Genomic reference NG_008093.1
Transcript reference NM_000190.3, NM_001024382.1, NM_001258208.1, NM_001258209.1
Associated with diseases Acute intermittent porphyria
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 158
Unique public DNA variants reported 15
Individuals with public variants 35
Hidden variants 32
Date created November 30, -0001
Date last updated September 28, 2016
Version HMBS:160928

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:4982
Entrez Gene 3145
PubMed articles HMBS
OMIM - Gene 609806
OMIM - Diseases Acute intermittent porphyria


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00028488 11 transcript variant 4 NM_001258209.1 NP_001245138.1 158
00028489 11 transcript variant 1 NM_000190.3 NP_000181.2 144
00028490 11 transcript variant 3 NM_001258208.1 NP_001245137.1 144
00028491 11 transcript variant 2 NM_001024382.1 NP_001019553.1 124