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), 59 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

Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA flagged as suspect.

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

Transcript Support Level 1, when transcripts 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 P1

PRINCIPAL1 - APPRIS candidate principal isoform.

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

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

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an EST.

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