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 12 domains and features, is associated with 381 variations and maps to 515 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
MMAA-201ENST00000281317.97068418aaENSP00000281317
 
Protein coding
CCDS3766Q8IVH4 NM_172250
NP_758454
TSL:2GENCODE basicAPPRIS P1
MMAA-205ENST00000541599.41437424aaENSP00000442284
 
Protein coding
-Q495G5 -TSL:5GENCODE basic
MMAA-204ENST00000511969.41352260aaENSP00000427422
 
Nonsense mediated decay
-D6RIS5 -TSL:1
MMAA-203ENST00000506919.11687No protein-
 
Retained intron
---TSL:5
MMAA-202ENST00000503730.1727No protein-
 
Retained intron
---TSL:3
Statistics

Exons: 7, Coding exons: 6, Transcript length: 7,068 bps, Translation length: 418 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS3766

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q8IVH4

Transcript Support Level (TSL)

TSL:2

Version

ENST00000281317.9

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Vega manual annotation have the same sequence, for every base pair. See article.

GENCODE basic gene

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

Transcript-based displays