{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA248275",
  "communityStandardTitle": [
    "NM_181426.2(CCDC39):c.1035-5T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196353[alleleid]",
        "alleleId": 196353,
        "preferredName": "NM_181426.2(CCDC39):c.1035-5T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/199194",
        "RCV": [
          "RCV000246088",
          "RCV000724057",
          "RCV002515301"
        ],
        "variationId": 199194
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-180369326-A-G",
        "id": "3-180369326-A-G",
        "variant": "3:180369326 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.180369326A>G?assembly=hg19",
        "id": "chr3:g.180369326A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.180651538A>G?assembly=hg38",
        "id": "chr3:g.180651538A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200089274",
        "rs": 200089274
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-180369326-A-G?dataset=gnomad_r2_1",
        "id": "3-180369326-A-G",
        "variant": "3:180369326 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-180651538-A-G?dataset=gnomad_r3",
        "id": "3-180651538-A-G",
        "variant": "3:180651538 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-180651538-A-G?dataset=gnomad_r4",
        "id": "3-180651538-A-G",
        "variant": "3:180651538 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 180651538,
          "referenceAllele": "A",
          "start": 180651537
        }
      ],
      "hgvs": [
        "NC_000003.12:g.180651538A>G",
        "CM000665.2:g.180651538A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 180369326,
          "referenceAllele": "A",
          "start": 180369325
        }
      ],
      "hgvs": [
        "NC_000003.11:g.180369326A>G",
        "CM000665.1:g.180369326A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 181852020,
          "referenceAllele": "A",
          "start": 181852019
        }
      ],
      "hgvs": [
        "NC_000003.10:g.181852020A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32958,
          "referenceAllele": "T",
          "start": 32957
        }
      ],
      "hgvs": [
        "NG_029581.1:g.32958T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004510"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1143,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 1143,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000476379.6:c.1035-5T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417960.2:n.1035-5T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757188",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000476379.6:c.1035-5T>C"
          },
          "RefSeq": {
            "hgvs": "NM_181426.2:c.1035-5T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417960.2:n.1035-5T>C"
          },
          "RefSeq": {
            "hgvs": "NP_852091.1:n.1035-5T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 921,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 921,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000650641.1:n.922-5T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1425,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 1425,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000650889.1:n.1426-5T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771369"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 936,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 936,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000651046.1:c.843-5T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499175.1:n.843-5T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 984,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 984,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000651818.1:n.985-5T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 359,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 359,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000651922.1:n.360-5T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 933,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 933,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000652024.1:n.934-5T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1171,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 1171,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "ENST00000652408.1:n.1172-5T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1154,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 1154,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "hgvs": [
        "ENST00000442201.6:c.1035-5T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405708.2:n.1035-5T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296770"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1906,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 1906,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "hgvs": [
        "ENST00000476379.5:c.1035-5T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417960.1:n.1035-5T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317448"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1149,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 1149,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "NM_181426.1:c.1035-5T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_852091.1:n.1035-5T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1143,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "T",
          "start": 1143,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "NM_181426.2:c.1035-5T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_852091.1:n.1035-5T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526857",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000476379.6:c.1035-5T>C"
          },
          "RefSeq": {
            "hgvs": "NM_181426.2:c.1035-5T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417960.2:n.1035-5T>C"
          },
          "RefSeq": {
            "hgvs": "NP_852091.1:n.1035-5T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}