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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: HMGCL ENSG00000117305

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Description

3-hydroxymethyl-3-methylglutaryl-CoA lyase [Source:HGNC Symbol;Acc:5005]

Gene Synonyms

HL

Location

Chromosome 1: 24,128,375-24,165,110 reverse strand.

GRCh37:CM000663.1

About this gene

This gene has 10 transcripts (splice variants), 1 paralogue and is associated with 4 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000374483.4	HMGCL-201	2151	300aa	ENSP00000363607.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B1AK13	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000374490.3	HMGCL-002	1600	325aa	ENSP00000363614.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS243	B1AK13 P35914	NM_000191.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000436439.2	HMGCL-007	1354	254aa	ENSP00000389281.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS53279	P35914	NM_001166059.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000235958.4	HMGCL-010	1101	182aa	ENSP00000235958.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000374487.2	HMGCL-001	2151	77aa	ENSP00000363611.2	Nonsense mediated decay		D6REN8	-	-
ENST00000509389.1	HMGCL-008	1379	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000496907.1	HMGCL-006	858	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000479458.1	HMGCL-003	594	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000498698.1	HMGCL-004	463	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000513148.1	HMGCL-009	2011	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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