Description

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

Synonyms

cblC, DKFZP564I122

Location
INSDC coordinates

chromosome:GRCh38:CM000663.2:45500053:45513382:1

About this gene

This gene has 3 transcripts (splice variants), 68 orthologues, is a member of 1 Ensembl protein family and is associated with 4 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
MMACHC-001ENST000004010615296282aaENSP00000383840
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS41324Q9Y4U1 NM_015506
NP_056321
TSL:2

Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS P1

PRINCIPAL1 - APPRIS candidate principal isoform.

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

MMACHC-201ENST000006161351510225aaENSP00000478859
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
---TSL:2

Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
MMACHC-004ENST00000477188607No protein-
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---TSL:3

Transcript Support Level 3, when transcripts are supported by a single EST only.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Gene-based displays