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Summary
Sequence
Protein Information
- Protein summary
- Domains & features
- Variants
- PDB 3D protein model
- AlphaFold predicted model
Genetic Variation
- Variant table
- Variant image
- Haplotypes
- Population comparison
- Comparison image
External References
- General identifiers
- Oligo probes
Supporting evidence
ID History
- Transcript history
- Protein history

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Transcript: ENST00000502692.1 ACTN3-003

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Description

actinin, alpha 3 (gene/pseudogene) [Source:HGNC Symbol;Acc:165]

Location

Chromosome 11: 66,313,866-66,330,797 forward strand.

About this transcript

This transcript has 21 exons, is associated with 8157 variant alleles and maps to 598 oligo probes.

Gene

This transcript is a product of gene ENSG00000248746.1 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000511191.1	ACTN3-005	704	72aa	ENSP00000426236.1	Nonsense mediated decay		D6RH00	-	-
ENST00000502692.1	ACTN3-003	3084	944aa	ENSP00000422007.1	Pseudogene owing to a SNP/indel but in other individuals/haplotypes/strains the gene is translated.Polymorphic pseudogene		-	NM_001258371.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000513398.1	ACTN3-001	2939	901aa	ENSP00000426797.1	Pseudogene owing to a SNP/indel but in other individuals/haplotypes/strains the gene is translated.Polymorphic pseudogene		-	NM_001104.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,

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Protein sequence

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