Transcript: ENST00000401061.4 MMACHC-001

Description

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

Gene Synonyms

DKFZP564I122, RP11-291L19.3, cblC

Location

About this transcript

This transcript has 4 exons, is annotated with 1 domain and feature, is associated with 5497 variant alleles and maps to 417 oligo probes.

Gene

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

Statistics

Exons: 4, Coding exons: 4, Transcript length: 2,981 bps, Translation length: 282 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9Y4U1

CCDS

This transcript is a member of the Human CCDS set: CCDS41324

Version

ENST00000401061.4

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000020864 (version 2)

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.