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

Chromosome 11: 17,515,442-17,565,963 reverse strand.

GRCh37:CM000673.1

About this gene

This gene has 10 transcripts (splice variants), 2 paralogues and is associated with 6 phenotypes.

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
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ENST00000527551.1USH1C-010371No protein-
 
Retained intron
---
ENST00000534556.1USH1C-012244No protein-
 
Retained intron
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