Gene: GJA1 ENSG00000152661

Description

gap junction protein, alpha 1, 43kDa [Source:HGNC Symbol;Acc:4274]

Gene Synonyms

AVSD3, CMDR, CX43, DFNB38, GJAL, HLHS1, HSS, ODD, ODDD, ODOD, SDTY3

Location

GRCh37:CM000668.1

About this gene

This gene has 1 transcript (splice variant), 17 paralogues and is associated with 25 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000282561.3	GJA1-001	3037	382aa	ENSP00000282561.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5123	B4DI81 B4DMC9 B4DN50 P17302	NM_000165.3	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,

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