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 12 exons, is annotated with 12 domains and features, is associated with 5557 variant alleles and maps to 203 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000005226.7USH1C-0062700899aaENSP00000005226.7
 
Protein coding
CCDS7825Q9Y6N9 NM_153676.3GENCODE basic
ENST00000527720.1USH1C-0052278521aaENSP00000432944.1
 
Protein coding
Q9Y6N9 -GENCODE basic
ENST00000318024.4USH1C-0012237552aaENSP00000317018.4
 
Protein coding
CCDS31438Q9Y6N9 NM_005709.3GENCODE basic
ENST00000527020.1USH1C-0032159533aaENSP00000436934.1
 
Protein coding
Q9Y6N9 -GENCODE basic
ENST00000526181.1USH1C-0081040317aaENSP00000437128.1
 
Protein coding
E9PNW1 -CDS 3' incomplete
ENST00000526313.1USH1C-0022149403aaENSP00000432236.1
 
Nonsense mediated decay
Q9Y6N9 --
ENST00000529563.1USH1C-009942No protein-
 
Processed transcript
---
ENST00000530700.1USH1C-011403No protein-
 
Processed transcript
---
ENST00000527551.1USH1C-010371No protein-
 
Retained intron
---
ENST00000534556.1USH1C-012244No protein-
 
Retained intron
---
Statistics

Exons: 12, Coding exons: 12, Transcript length: 1,040 bps, Translation length: 317 residues

Incomplete CDS

CDS 3' incomplete

Version

ENST00000526181.1

Type

Protein coding

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:
OTTHUMT00000389156 (version 1)