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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 27 exons, is annotated with 28 domains and features, is associated with 15032 variant alleles and maps to 705 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: 27, Coding exons: 27, Transcript length: 2,700 bps, Translation length: 899 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS7825

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9Y6N9

Version

ENST00000005226.7

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:
OTTHUMT00000389153 (version 1)
Annotation Attributes

dotter confirmed [Definitions]

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Transcript-based displays