Description

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

Synonyms

HSCO, YF13H12

Location
About this transcript

This transcript has 7 exons, is annotated with 6 domains and features, is associated with 80 variations and maps to 22 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
ETHE1-001ENST00000292147963254aaENSP00000292147
 
Protein coding
CCDS12622O95571 NM_014297
NP_055112
TSL:1GENCODE basicAPPRIS P1
ETHE1-004ENST000006006511052260aaENSP00000469037
 
Protein coding
-M0QXB5 -TSL:1GENCODE basic
ETHE1-005ENST0000059833091595aaENSP00000469219
 
Nonsense mediated decay
-M0QY80 -TSL:2
ETHE1-002ENST0000059434270295aaENSP00000469652
 
Nonsense mediated decay
-M0QY80 -TSL:2
ETHE1-006ENST0000060213864851aaENSP00000468964
 
Nonsense mediated decay
-M0QX80 -TSL:3
ETHE1-003ENST00000595115593No protein-
 
Retained intron
---TSL:2

Transcript-based displays