Human (GRCh38.p14)
Description

USH1 protein network component harmonin [Source:HGNC Symbol;Acc:HGNC:12597]

Gene Synonyms

AIE-75, DFNB18, HARMONIN, NY-CO-37, NY-CO-38, PDZ-73, PDZ73, PDZD7C

Location
About this transcript

This transcript has 20 exons, is annotated with 27 domains and features, is associated with 23381 variant alleles and maps to 555 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000005226.12USH1C-2013241899aaENSP00000005226.7
 
Protein coding
CCDS7825Q9Y6N9-5 NM_153676.4MANE SelectEnsembl CanonicalGENCODE basicTSL:5
ENST00000527720.5USH1C-2072278521aaENSP00000432944.1
 
Protein coding
Q9Y6N9-2 -GENCODE basicTSL:1
ENST00000318024.9USH1C-2022232552aaENSP00000317018.4
 
Protein coding
CCDS31438Q9Y6N9-1 NM_005709.4MANE Plus ClinicalGENCODE basicAPPRIS P1TSL:1
ENST00000527020.5USH1C-2052159533aaENSP00000436934.1
 
Protein coding
CCDS73265Q9Y6N9-4 -GENCODE basicTSL:1
ENST00000526181.1USH1C-2031040317aaENSP00000437128.1
 
Protein coding
E9PNW1 -TSL:5CDS 3' incomplete
ENST00000526313.5USH1C-2042149403aaENSP00000432236.1
 
Nonsense mediated decay
Q9Y6N9-3 -TSL:1
ENST00000529563.5USH1C-208942No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000530700.1USH1C-209403No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000527551.1USH1C-206371No protein-
 
Retained intron
--TSL:2
ENST00000534556.1USH1C-210244No protein-
 
Retained intron
--TSL:3
ENST00000624811.1USH1C-2111194No protein-
 
TEC
--TSL:NA
Statistics

Exons: 20, Coding exons: 20, Transcript length: 2,159 bps, Translation length: 533 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9Y6N9

CCDS

This transcript is a member of the Human CCDS set: CCDS73265

Transcript Support Level (TSL)

TSL:1

Version

ENST00000527020.5

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

GENCODE basic gene

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