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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: HBB ENSG00000244734

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Description

hemoglobin, beta [Source:HGNC Symbol;Acc:4827]

Gene Synonyms

CD113t-C, HBD, beta-globin

Location

Chromosome 11: 5,246,694-5,250,625 reverse strand.

GRCh37:CM000673.1

About this gene

This gene has 4 transcripts (splice variants), 9 paralogues and is associated with 24 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000335295.4	HBB-001	628	147aa	ENSP00000333994.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7753	B3VL12 B5ANL9 D5FZW3 D9YZU5 E9M263 F8W6P5 J7LKS8 K4EN30 P68871 Q0Z944 Q14484 Q6VFQ5 Q7Z2K5 Q86VF0 Q9BXA2 Q9GZL9 Q9H1I6	NM_000518.4	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000380315.2	HBB-004	502	90aa	ENSP00000369671.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B3VL12 B5ANL9 D5FZW3 E9M263 F8W6P5 J7LKS8 K4EN30 Q14484 Q7Z2K5 Q86VF0 Q9BXA2 Q9H1I6	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000485743.1	HBB-002	680	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000475226.1	HBB-003	319	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Summary

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