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 4 exons, is associated with 2856 variant alleles and maps to 61 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: 4, Coding exons: 0, Transcript length: 403 bps,

Version

ENST00000530700.1

Type

Processed transcript

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:
OTTHUMT00000389155 (version 1)