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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 5 exons, is annotated with 3 domains and features, is associated with 5849 variant alleles and maps to 233 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ETHE1-001ENST00000292147.2963254aaENSP00000292147.1
 
Protein coding
CCDS12622B2RCZ7 O95571 NM_014297
NP_055112
GENCODE basic
ETHE1-004ENST00000600651.11052260aaENSP00000469037.1
 
Protein coding
-M0QXB5 -GENCODE basic
ETHE1-005ENST00000598330.191595aaENSP00000469219.1
 
Nonsense mediated decay
-M0QY80 --
ETHE1-002ENST00000594342.170295aaENSP00000469652.1
 
Nonsense mediated decay
-M0QY80 --
ETHE1-006ENST00000602138.164851aaENSP00000468964.1
 
Nonsense mediated decay
-M0QX80 --
ETHE1-003ENST00000595115.1593No protein-
 
Retained intron
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Statistics

Exons: 5, Coding exons: 3, Transcript length: 915 bps, Translation length: 95 residues

Version

ENST00000598330.1

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:
OTTHUMT00000463187 (version 1)

Transcript-based displays