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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 7 exons, is annotated with 6 domains and features, is associated with 6344 variant alleles and maps to 389 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: 7, Coding exons: 7, Transcript length: 963 bps, Translation length: 254 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS12622

Uniprot

This transcript corresponds to the following Uniprot identifiers: O95571

Version

ENST00000292147.2

Type

Protein coding

Annotation Method

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

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:
OTTHUMT00000463184 (version 1)
GENCODE basic gene

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

Transcript-based displays