Gene: MMACHC ENSG00000132763

Description

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria [Source:HGNC Symbol;Acc:24525]

Gene Synonyms

DKFZP564I122, RP11-291L19.3, cblC

Location

GRCh37:CM000663.1

About this gene

This gene has 2 transcripts (splice variants) and is associated with 5 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000401061.4	MMACHC-001	2981	282aa	ENSP00000383840.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS41324	Q9Y4U1	NM_015506.2	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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000477188.1	MMACHC-004	607	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

Summary