Transcript: ENST00000503730.1 MMAA-005

Description

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

Gene Synonyms

cblA

Location

About this transcript

This transcript has 3 exons, is associated with 1883 variant alleles and maps to 223 oligo probes.

Gene

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000281317.5	MMAA-001	7068	418aa	ENSP00000281317.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS3766	Q495G6 Q8IVH4	NM_172250.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000541599.1	MMAA-201	1352	137aa	ENSP00000442284.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q495G6	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000511969.1	MMAA-002	1352	260aa	ENSP00000427422.1	Nonsense mediated decay		D6RIS5	-	-
ENST00000506919.1	MMAA-004	1687	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000503730.1	MMAA-005	727	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Statistics

Exons: 3, Coding exons: 0, Transcript length: 727 bps,

Version

ENST00000503730.1

Type

Retained intron

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000367786 (version 1)