Description

methylmalonic aciduria (cobalamin deficiency) cblA type [Source:HGNC Symbol;Acc:HGNC:18871]

Synonyms

cblA

INSDC coordinates

chromosome:GRCh38:CM000666.2:145618263:145660035:1

Transcripts

This gene has 5 transcripts (splice variants) Show transcript tableHide transcript table

NameTranscript IDLengthProteinBiotypeCCDSUniProtRefSeqFlags
MMAA-001ENST000002813177068 bp418 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS3766Q495G6 Q8IVH4 NM_172250
NP_758454
GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
MMAA-201ENST000005415995942 bp424 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-Q495G5 -GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
MMAA-002ENST000005119691352 bp260 aa (view)
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-D6RIS5 -
MMAA-004ENST000005069191687 bp No protein product
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
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MMAA-005ENST00000503730727 bp No protein product
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
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Gene-based displays