Gene: Mmachc ENSMUSG00000028690

Description

methylmalonic aciduria cblC type, with homocystinuria [Source:MGI Symbol;Acc:MGI:1914346]

Gene Synonyms

1810037K07Rik

Location

Chromosome 4: 116,559,476-116,565,603 reverse strand.

GRCm39:CM000997.3

About this gene

This gene has 2 transcripts (splice variants), 196 orthologues and is associated with 48 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	Flags
ENSMUST00000030453.5	Mmachc-201	2106	279aa	ENSMUSP00000030453.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS51278	Q9CZD0	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, GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1, TSL 1: A transcript where all splice junctions 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, based on the type and quality of the alignments used to annotate the transcript. TSL:1,
ENSMUST00000143330.2	Mmachc-202	478	No protein	-	Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined		-	TSL 3: A transcript where the only support is from a single EST The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:3,