Description

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

Synonyms

HSCO, YF13H12

Location
INSDC coordinates

chromosome:GRCh38:CM000681.2:43506719:43527244:1

Transcripts

This gene has 6 transcripts (splice variants) Show transcript tableHide transcript table

NameTranscript IDLengthProteinBiotypeCCDSUniProtRefSeqFlags
ETHE1-001ENST00000292147963 bp254 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS12622B2RCZ7 O95571 NM_014297
NP_055112
GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
ETHE1-004ENST000006006511052 bp260 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-M0QXB5 -GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
ETHE1-005ENST00000598330915 bp95 aa (view)
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-M0QY80 -
ETHE1-002ENST00000594342702 bp95 aa (view)
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-M0QY80 -
ETHE1-006ENST00000602138648 bp51 aa (view)
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-M0QX80 -
ETHE1-003ENST00000595115593 bp No protein product
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
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Gene-based displays