Description

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

Synonyms

cblA

Location

Chromosome 4: 145,618,263-145,660,035 forward strand.

GRCh38:CM000666.2

About this gene

This gene has 5 transcripts (splice variants), 64 orthologues, is a member of 1 Ensembl protein family and is associated with 3 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
MMAA-001ENST000002813177068418aaENSP00000281317
 
Protein coding
CCDS3766Q8IVH4 NM_172250
NP_758454
TSL:2GENCODE basicAPPRIS P1
MMAA-201ENST000005415991437424aaENSP00000442284
 
Protein coding
-Q495G5 -TSL:5GENCODE basic
MMAA-002ENST000005119691352260aaENSP00000427422
 
Nonsense mediated decay
-D6RIS5 -TSL:1
MMAA-004ENST000005069191687No protein-
 
Retained intron
---TSL:5
MMAA-005ENST00000503730727No protein-
 
Retained intron
---TSL:3

Gene-based displays