HumanVega Home
Description

ethylmalonic encephalopathy 1

Synonyms

HSCO, YF13H12

Location

Chromosome 19: 43,506,719-43,527,244 reverse strand.

VEGA68:CM000681.2

About this gene

This gene has 6 transcripts (splice variants).

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtFlags
ETHE1-001OTTHUMT00000463184.1963254aaOTTHUMP00000269910
 
Protein coding
CCDS12622A0A0S2Z5B3
ETHE1-004OTTHUMT00000463186.11052260aaOTTHUMP00000269912
 
Protein coding
-M0QXB5
ETHE1-005OTTHUMT00000463187.191595aaOTTHUMP00000269913
 
Nonsense mediated decay
--
ETHE1-002OTTHUMT00000463185.170295aaOTTHUMP00000269911
 
Nonsense mediated decay
--
ETHE1-006OTTHUMT00000463664.164851aaOTTHUMP00000270177
 
Nonsense mediated decay
--
ETHE1-003OTTHUMT00000463188.1593No protein-
 
Retained intron
--

Gene-based displays