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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 3 exons, is associated with 427 variant alleles and maps to 62 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: 3, Coding exons: 0, Transcript length: 244 bps,

Version

ENST00000534556.1

Type

Retained intron

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:
OTTHUMT00000389154 (version 1)

Transcript-based displays