methylmalonic aciduria (cobalamin deficiency) cblA type [Source:HGNC Symbol;Acc:18871]
cblA
Chromosome 4: 146,560,245-146,576,720 forward strand.
This transcript has 5 exons, is annotated with 5 domains and features, is associated with 6480 variant alleles and maps to 275 oligo probes.
This transcript is a product of gene ENSG00000151611.9 Show transcript tableHide transcript table
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000281317.5 | MMAA-001 | 7068 | 418aa | ENSP00000281317.5 | Protein coding | CCDS3766 | Q495G6 Q8IVH4 | NM_172250.2 | GENCODE basic, |
ENST00000541599.1 | MMAA-201 | 1352 | 137aa | ENSP00000442284.1 | Protein coding | Q495G6 | - | GENCODE basic, | |
ENST00000511969.1 | MMAA-002 | 1352 | 260aa | ENSP00000427422.1 | Nonsense mediated decay | D6RIS5 | - | - | |
ENST00000506919.1 | MMAA-004 | 1687 | No protein | - | Retained intron | - | - | - | |
ENST00000503730.1 | MMAA-005 | 727 | No protein | - | Retained intron | - | - | - |