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Human (GRCh37.p13)
Description

ethylmalonic encephalopathy 1 [Source:HGNC Symbol;Acc:23287]

Gene Synonyms

HSCO, YF13H12

Location
About this transcript

This transcript has 6 exons, is annotated with 3 domains and features, is associated with 6269 variant alleles and maps to 297 oligo probes.

Gene
Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000292147.2ETHE1-001963254aaENSP00000292147.1
 
Protein coding
CCDS12622B2RCZ7 O95571 NM_014297
NP_055112
GENCODE basic
ENST00000600651.1ETHE1-0041052260aaENSP00000469037.1
 
Protein coding
-M0QXB5 -GENCODE basic
ENST00000598330.1ETHE1-00591595aaENSP00000469219.1
 
Nonsense mediated decay
-M0QY80 --
ENST00000594342.1ETHE1-00270295aaENSP00000469652.1
 
Nonsense mediated decay
-M0QY80 --
ENST00000602138.1ETHE1-00664851aaENSP00000468964.1
 
Nonsense mediated decay
-M0QX80 --
ENST00000595115.1ETHE1-003593No protein-
 
Retained intron
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Statistics

Exons: 6, Coding exons: 3, Transcript length: 702 bps, Translation length: 95 residues

Version

ENST00000594342.1

Type

Nonsense mediated decay

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:
OTTHUMT00000463185 (version 1)

Transcript-based displays