Description

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

Location
INSDC coordinates

chromosome:GRCh38:CM000673.2:66546395:66563329:1

About this gene

This gene has 3 transcripts (splice variants), 60 orthologues, 13 paralogues, is a member of 2 Ensembl protein families and is associated with 1 phenotype.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
ACTN3-003ENST000005026923084944aaENSP00000422007
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A087WSZ2 NM_001258371
NP_001245300
TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
ACTN3-001ENST000005133982939901aaENSP00000426797
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-Q08043 NM_001104
NP_001095
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS PI1APPRIS principal isoform
Glossary entry for APPRIS
APPRIS website
ACTN3-005ENST0000051119170472aaENSP00000426236
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-D6RH00 -TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Gene-based displays