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Human (GRCh37.p13)
Description

Usher syndrome 1C (autosomal recessive, severe) [Source:HGNC Symbol;Acc:12597]

Gene Synonyms

AIE-75, AIE75, DFNB18, DFNB18A, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, harmonin, ush1cpst

Location
About this transcript

This transcript has 20 exons, is annotated with 16 domains and features, is associated with 15244 variant alleles and maps to 629 oligo probes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
USH1C-006ENST00000005226.72700899aaENSP00000005226.7
 
Protein coding
CCDS7825Q9Y6N9 NM_153676
NP_710142
GENCODE basic
USH1C-001ENST00000318024.42237552aaENSP00000317018.4
 
Protein coding
CCDS31438Q9Y6N9 NM_005709
NP_005700
GENCODE basic
USH1C-005ENST00000527720.12278521aaENSP00000432944.1
 
Protein coding
-Q9Y6N9 -GENCODE basic
USH1C-003ENST00000527020.12159533aaENSP00000436934.1
 
Protein coding
-Q9Y6N9 -GENCODE basic
USH1C-008ENST00000526181.11040317aaENSP00000437128.1
 
Protein coding
-E9PNW1 -CDS 3' incomplete
USH1C-002ENST00000526313.12149403aaENSP00000432236.1
 
Nonsense mediated decay
-Q9Y6N9 --
USH1C-009ENST00000529563.1942No protein-
 
Processed transcript
----
USH1C-011ENST00000530700.1403No protein-
 
Processed transcript
----
USH1C-010ENST00000527551.1371No protein-
 
Retained intron
----
USH1C-012ENST00000534556.1244No protein-
 
Retained intron
----
Statistics

Exons: 20, Coding exons: 15, Transcript length: 2,149 bps, Translation length: 403 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9Y6N9

Version

ENST00000526313.1

Type

Nonsense mediated decay

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
OTTHUMT00000389145 (version 1)

Transcript-based displays