The HBA1 gene homepage

General information
Gene symbol HBA1
Gene name hemoglobin, alpha 1
Chromosome 16
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_000006.1
Transcript reference NM_000558.3
Exon/intron information NM_000558.3 exon/intron table
Associated with diseases anemia, Heinz, thal, thal-alpa, hemoglobin H disease
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 425
Unique public DNA variants reported 382
Individuals with public variants 677
Hidden variants 1
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created November 06, 2008
Date last updated February 13, 2021
Version HBA1:210213

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_000558.3.
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
External URL HbVar - human hemoglobin variants and thalassemias
The Globin Gene Server
HGNC 4823
Entrez Gene 3039
PubMed articles HBA1
OMIM - Gene 141800
OMIM - Diseases anemia, Heinz (anemia, Heinz body)
thal-alpa (thalassemia, alpha)
hemoglobin H disease
GeneCards HBA1
GeneTests HBA1
Orphanet HBA1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000194 16 hemoglobin, alpha 1 NM_000558.3 NP_000549.1 425

Copyright & disclaimer
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