EnsemblEnsembl Home
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.

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
----

Gene-based displays