{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350826518",
  "communityStandardTitle": [
    "NM_003590.5(CUL3):c.1485+1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3522075[alleleid]",
        "alleleId": 3522075,
        "preferredName": "NM_003590.5(CUL3):c.1485+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3362868",
        "RCV": [
          "RCV004764896"
        ],
        "variationId": 3362868
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.225367681C>A?assembly=hg19",
        "id": "chr2:g.225367681C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.224502964C>A?assembly=hg38",
        "id": "chr2:g.224502964C>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 224502964,
          "referenceAllele": "C",
          "start": 224502963
        }
      ],
      "hgvs": [
        "NC_000002.12:g.224502964C>A",
        "CM000664.2:g.224502964C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 225367681,
          "referenceAllele": "C",
          "start": 225367680
        }
      ],
      "hgvs": [
        "NC_000002.11:g.225367681C>A",
        "CM000664.1:g.225367681C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 225075925,
          "referenceAllele": "C",
          "start": 225075924
        }
      ],
      "hgvs": [
        "NC_000002.10:g.225075925C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 87434,
          "referenceAllele": "G",
          "start": 87433
        }
      ],
      "hgvs": [
        "NG_032169.1:g.87434G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005162"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1839,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1839,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002553",
      "geneNCBI_id": 8452,
      "geneSymbol": "CUL3",
      "hgvs": [
        "ENST00000264414.9:c.1485+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264414.4:n.1485+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742672",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264414.9:c.1485+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003590.5:c.1485+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264414.4:n.1485+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_003581.1:n.1485+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1824,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1824,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002553",
      "geneNCBI_id": 8452,
      "geneSymbol": "CUL3",
      "hgvs": [
        "ENST00000264414.8:c.1485+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264414.4:n.1485+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251499"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1675,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1675,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002553",
      "geneNCBI_id": 8452,
      "geneSymbol": "CUL3",
      "hgvs": [
        "ENST00000344951.8:c.1287+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343601.4:n.1287+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262101"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1556,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1556,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002553",
      "geneNCBI_id": 8452,
      "geneSymbol": "CUL3",
      "hgvs": [
        "ENST00000409096.5:c.1413+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387200.1:n.1413+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2019,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2019,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002553",
      "geneNCBI_id": 8452,
      "geneSymbol": "CUL3",
      "hgvs": [
        "ENST00000409777.5:c.1413+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386525.1:n.1413+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 293,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 293,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002553",
      "geneNCBI_id": 8452,
      "geneSymbol": "CUL3",
      "hgvs": [
        "ENST00000617432.4:c.207+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477851.1:n.207+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1675,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1675,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002553",
      "geneNCBI_id": 8452,
      "geneSymbol": "CUL3",
      "hgvs": [
        "NM_001257197.1:c.1287+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244126.1:n.1287+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1556,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1556,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002553",
      "geneNCBI_id": 8452,
      "geneSymbol": "CUL3",
      "hgvs": [
        "NM_001257198.1:c.1503+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244127.1:n.1503+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1873,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1873,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002553",
      "geneNCBI_id": 8452,
      "geneSymbol": "CUL3",
      "hgvs": [
        "NM_003590.4:c.1485+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003581.1:n.1485+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1546,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1546,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002553",
      "geneNCBI_id": 8452,
      "geneSymbol": "CUL3",
      "hgvs": [
        "XM_006712800.2:c.1452+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712863.2:n.1452+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1372,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1372,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002553",
      "geneNCBI_id": 8452,
      "geneSymbol": "CUL3",
      "hgvs": [
        "XM_011511994.1:c.1338+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510296.1:n.1338+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079253"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1458,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1458,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002553",
      "geneNCBI_id": 8452,
      "geneSymbol": "CUL3",
      "hgvs": [
        "XM_011511995.1:c.1443+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510297.1:n.1443+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1545,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1545,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002553",
      "geneNCBI_id": 8452,
      "geneSymbol": "CUL3",
      "hgvs": [
        "XM_011511996.1:c.1293+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510298.1:n.1293+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1200,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1200,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002553",
      "geneNCBI_id": 8452,
      "geneSymbol": "CUL3",
      "hgvs": [
        "XM_011511997.1:c.1185+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510299.1:n.1185+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1433,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1433,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002553",
      "geneNCBI_id": 8452,
      "geneSymbol": "CUL3",
      "hgvs": [
        "XM_011511994.3:c.1338+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510296.1:n.1338+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1522,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1522,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002553",
      "geneNCBI_id": 8452,
      "geneSymbol": "CUL3",
      "hgvs": [
        "XM_011511996.2:c.1293+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510298.1:n.1293+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1839,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1839,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002553",
      "geneNCBI_id": 8452,
      "geneSymbol": "CUL3",
      "hgvs": [
        "NM_003590.5:c.1485+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003581.1:n.1485+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666086",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264414.9:c.1485+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003590.5:c.1485+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264414.4:n.1485+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_003581.1:n.1485+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1686,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1686,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002553",
      "geneNCBI_id": 8452,
      "geneSymbol": "CUL3",
      "hgvs": [
        "NM_001257198.2:c.1503+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244127.1:n.1503+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1641,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1641,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002553",
      "geneNCBI_id": 8452,
      "geneSymbol": "CUL3",
      "hgvs": [
        "NM_001257197.2:c.1287+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244126.1:n.1287+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714871"
    }
  ],
  "type": "nucleotide"
}