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    ATXN3 ataxin 3 [ Homo sapiens (human) ]

    Gene ID: 4287, updated on 7-Jul-2024

    Summary

    Official Symbol
    ATXN3provided by HGNC
    Official Full Name
    ataxin 3provided by HGNC
    Primary source
    HGNC:HGNC:7106
    See related
    Ensembl:ENSG00000066427 MIM:607047; AllianceGenome:HGNC:7106
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AT3; JOS; MJD; ATX3; MJD1; SCA3
    Summary
    Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in skin (RPKM 4.6), testis (RPKM 3.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ATXN3 in Genome Data Viewer
    Location:
    14q32.12
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (92044775..92106582, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (86274279..86336122, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (92524896..92572926, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92363455-92363968 Neighboring gene fibulin 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:92392675-92393174 Neighboring gene thyroid hormone receptor interactor 11 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92506403-92507190 Neighboring gene uncharacterized LOC124903363 Neighboring gene MPRA-validated peak2235 silencer Neighboring gene prothymosin alpha pseudogene 7 Neighboring gene MPRA-validated peak2236 silencer Neighboring gene ataxin 3 repeat instability region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6031 Neighboring gene NANOG hESC enhancer GRCh37_chr14:92566141-92566677 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92572215-92573149 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:92574354-92575164 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92586481-92587470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8927 Neighboring gene NADH:ubiquinone oxidoreductase subunit B1 Neighboring gene cleavage and polyadenylation specific factor 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:92624044-92624245

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genetics of coronary artery calcification among African Americans, a meta-analysis.
    EBI GWAS Catalog
    Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.
    EBI GWAS Catalog
    Identification of ten loci associated with height highlights new biological pathways in human growth.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables K48-linked deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables K63-linked deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cysteine-type deubiquitinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cysteine-type deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cysteine-type deubiquitinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables cysteine-type deubiquitinase activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to amino acid starvation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to heat ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to misfolded protein ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within intermediate filament cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within microtubule cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in monoubiquitinated protein deubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of TORC1 signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in nucleotide-excision repair TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of ERAD pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein K48-linked deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein K63-linked deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein deubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein localization to cytosolic proteasome complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein quality control for misfolded or incompletely synthesized proteins ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within regulation of cell-substrate adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    colocalizes_with endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrial membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nuclear inclusion body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ataxin-3
    Names
    Machado-Joseph disease protein 1
    josephin
    olivopontocerebellar ataxia 3
    spinocerebellar ataxia type 3 protein
    NP_001121168.1
    NP_001121169.2
    NP_001158246.1
    NP_001158248.1
    NP_001158249.1
    NP_001158250.1
    NP_001158251.1
    NP_001158252.1
    NP_001158253.1
    NP_001158254.1
    NP_001410999.1
    NP_004984.2
    NP_109376.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008198.2 RefSeqGene

      Range
      5040..53070
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_865

    mRNA and Protein(s)

    1. NM_001127696.2NP_001121168.1  ataxin-3 isoform ad

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ad, also known as variant 3) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform ad (also known as isoform 3).
      Source sequence(s)
      AB050194, AL049872, BU190081
      Consensus CDS
      CCDS45154.1
      UniProtKB/TrEMBL
      Q4VBR4
      Related
      ENSP00000426697.1, ENST00000503767.5
      Conserved Domains (2) summary
      pfam02099
      Location:9148
      Josephin; Josephin
      pfam16619
      Location:249313
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
    2. NM_001127697.3NP_001121169.2  ataxin-3 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e, also known as variant 4) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform e (also known as isoform 4).
      Source sequence(s)
      AL049872, AL121773
      UniProtKB/TrEMBL
      A0A0A0MS38, G3V4U9
      Related
      ENSP00000376965.6, ENST00000393287.9
      Conserved Domains (2) summary
      pfam02099
      Location:9112
      Josephin; Josephin
      pfam16619
      Location:213277
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
    3. NM_001164774.2NP_001158246.1  ataxin-3 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform b.
      Source sequence(s)
      AL049872, AL121773
      Conserved Domains (1) summary
      pfam02099
      Location:956
      Josephin; Josephin
    4. NM_001164776.2NP_001158248.1  ataxin-3 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (g) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform g.
      Source sequence(s)
      AL049872, AL121773
      UniProtKB/TrEMBL
      D3VVF1
      Conserved Domains (1) summary
      pfam02099
      Location:978
      Josephin; Josephin
    5. NM_001164777.2NP_001158249.1  ataxin-3 isoform j

      Status: REVIEWED

      Description
      Transcript Variant: This variant (j) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform j.
      Source sequence(s)
      AL049872, AL121773
      Conserved Domains (1) summary
      pfam02099
      Location:1023
      Josephin; Josephin
    6. NM_001164778.2NP_001158250.1  ataxin-3 isoform o

      Status: REVIEWED

      Description
      Transcript Variant: This variant (o) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform o.
      Source sequence(s)
      AL049872, AL121773
      UniProtKB/TrEMBL
      G3V4F5
      Conserved Domains (1) summary
      pfam02099
      Location:9129
      Josephin; Josephin
    7. NM_001164779.2NP_001158251.1  ataxin-3 isoform r

      Status: REVIEWED

      Description
      Transcript Variant: This variant (r) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform r.
      Source sequence(s)
      AL049872, AL121773
      UniProtKB/TrEMBL
      D3VVI1
      Related
      ENSP00000450641.1, ENST00000556220.5
      Conserved Domains (2) summary
      pfam02099
      Location:542
      Josephin; Josephin
      pfam16619
      Location:143207
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
    8. NM_001164780.2NP_001158252.1  ataxin-3 isoform u

      Status: REVIEWED

      Description
      Transcript Variant: This variant (u) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform u. PMID:19714377 predicts that this is a noncoding transcript, but there is a downstream orf that may encode a protein identical to the C-terminus of the reference isoform.
      Source sequence(s)
      AL049872, AL121773
      Consensus CDS
      CCDS53908.1
      UniProtKB/TrEMBL
      G3V2G2
      Related
      ENSP00000425322.1, ENST00000502250.5
      Conserved Domains (1) summary
      pfam16619
      Location:85149
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
    9. NM_001164781.2NP_001158253.1  ataxin-3 isoform y

      Status: REVIEWED

      Description
      Transcript Variant: This variant (y) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform y.
      Source sequence(s)
      AL049872, AL121773
      Consensus CDS
      CCDS73680.1
      UniProtKB/TrEMBL
      C9JQV6, G3V328
      Related
      ENSP00000389376.3, ENST00000429774.6
      Conserved Domains (2) summary
      pfam02099
      Location:993
      Josephin; Josephin
      pfam16619
      Location:194258
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
    10. NM_001164782.2NP_001158254.1  ataxin-3 isoform ae

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ae) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform ae.
      Source sequence(s)
      AL049872, AL121773
    11. NM_001424070.1NP_001410999.1  ataxin-3 isoform ag

      Status: REVIEWED

      Source sequence(s)
      CP068264
      UniProtKB/TrEMBL
      Q4VBR4
    12. NM_004993.6NP_004984.2  ataxin-3 reference isoform

      See identical proteins and their annotated locations for NP_004984.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (reference, also known as variant 1) encodes the longest isoform (reference isoform, also known as isoform 1).
      Source sequence(s)
      AB050194, AL049872, DA827537
      Consensus CDS
      CCDS9900.1
      UniProtKB/Swiss-Prot
      A7LFZ5, D6RDL9, E9PB63, O15284, O15285, O15286, P54252, Q8N189, Q96TC3, Q96TC4, Q9H3N0
      UniProtKB/TrEMBL
      Q4VBR4
      Related
      ENSP00000496695.1, ENST00000644486.2
      Conserved Domains (2) summary
      pfam02099
      Location:11163
      Josephin; Josephin
      pfam16619
      Location:264328
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
    13. NM_030660.5NP_109376.1  ataxin-3 isoform h

      See identical proteins and their annotated locations for NP_109376.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (h, also known as variant 2) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform h (also known as isoform 2).
      Source sequence(s)
      AB050194, AL049872
      Consensus CDS
      CCDS32143.1
      UniProtKB/TrEMBL
      D3VVK3
      Related
      ENSP00000339110.6, ENST00000340660.10
      Conserved Domains (2) summary
      pfam02099
      Location:10108
      Josephin; Josephin
      pfam16619
      Location:209273
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3

    RNA

    1. NR_028453.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773
    2. NR_028454.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (d) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773
    3. NR_028455.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (f) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773
    4. NR_028456.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (i) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773
    5. NR_028457.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (k) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773
    6. NR_028458.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (l) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773
    7. NR_028459.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (m) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is a nonsense-mediated mRNA decay candidate and is not thought to be protein-coding, although PMID:19714377 predicts that it is protein-coding.
      Source sequence(s)
      AL049872, AL121773
    8. NR_028460.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (n) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773
    9. NR_028461.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (p) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773
    10. NR_028462.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (q) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is a nonsense-mediated mRNA decay candidate and is not thought to be protein-coding, although PMID:19714377 predicts that it is protein-coding.
      Source sequence(s)
      AL049872, AL121773
    11. NR_028463.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (t) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773
    12. NR_028464.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (v) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is a nonsense-mediated mRNA decay candidate and is not thought to be protein-coding, although PMID:19714377 predicts that it is protein-coding.
      Source sequence(s)
      AL049872, AL121773
    13. NR_028465.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (w) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773
    14. NR_028466.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (x) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773
    15. NR_028467.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (z) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773
    16. NR_028468.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ac) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773
    17. NR_028469.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (af) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773
    18. NR_028470.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (am) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773
    19. NR_031765.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (c) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773
    20. NR_187583.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049872, AL121773
    21. NR_187584.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049872, AL121773

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      92044775..92106582 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      86274279..86336122 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001024631.1: Suppressed sequence

      Description
      NM_001024631.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.