Transcript: ENST00000428879.1 MMADHC-001

Description

methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria [Source:HGNC Symbol;Acc:25221]

Gene Synonyms

C2orf25, CL25022, cblD

Location

About this transcript

This transcript has 7 exons, is annotated with 3 domains and features, is associated with 7884 variant alleles and maps to 371 oligo probes.

Gene

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000428879.1	MMADHC-001	1726	296aa	ENSP00000389060.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2189	Q9H3L0	-	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,
ENST00000422782.2	MMADHC-004	1462	330aa	ENSP00000408331.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F8WEC0	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000303319.5	MMADHC-006	1436	296aa	ENSP00000301920.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2189	Q9H3L0	NM_015702.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000460311.1	MMADHC-005	324	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

Summary

Statistics

Exons: 7, Coding exons: 7, Transcript length: 1,726 bps, Translation length: 296 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9H3L0

CCDS

This transcript is a member of the Human CCDS set: CCDS2189

Version

ENST00000428879.1

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000332312 (version 1)

GENCODE basic gene

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