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Human (GRCh37.p13)
Description

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

Gene Synonyms

HSCO, YF13H12

Location

Chromosome 19: 44,010,871-44,031,396 reverse strand.

GRCh37:CM000681.1

About this gene

This gene has 6 transcripts (splice variants), 3 paralogues and is associated with 3 phenotypes.

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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Gene-based displays