Description

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

Synonyms

cblA

About this transcript

This transcript has 7 exons, is annotated with 8 domains and features, is associated with 171 variations and maps to 39 oligo probes.

Gene
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

Protein domains for ENSP00000281317.5

Transcript-based displays