{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2188136559",
  "communityStandardTitle": [
    "NM_001145358.2(SIN3A):c.190-3505C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/8028182",
        "rs": 8028182
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 75426328,
          "referenceAllele": "G",
          "start": 75426327
        }
      ],
      "hgvs": [
        "NC_000015.10:g.75426328G=",
        "CM000677.2:g.75426328G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 75718669,
          "referenceAllele": "G",
          "start": 75718668
        }
      ],
      "hgvs": [
        "NC_000015.9:g.75718669G=",
        "CM000677.1:g.75718669G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 73505722,
          "referenceAllele": "G",
          "start": 73505721
        }
      ],
      "hgvs": [
        "NC_000015.8:g.73505722G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 34456,
          "referenceAllele": "C",
          "start": 34455
        }
      ],
      "hgvs": [
        "NG_052855.1:g.34456C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617222"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 277,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 277,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "ENST00000564778.6:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455204.2:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905944"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 644,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 644,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "ENST00000565264.2:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454296.2:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 339,
          "endIntronDirection": "-",
          "endIntronOffset": 3053,
          "referenceAllele": "C",
          "start": 339,
          "startIntronDirection": "-",
          "startIntronOffset": 3054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "ENST00000704304.1:c.190-3054C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515828.1:n.190-3054C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912229"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 189,
          "endIntronDirection": "-",
          "endIntronOffset": 3053,
          "referenceAllele": "C",
          "start": 189,
          "startIntronDirection": "-",
          "startIntronOffset": 3054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "ENST00000704305.1:c.190-3054C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515829.1:n.190-3054C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 189,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 189,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "ENST00000704310.1:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515832.1:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 539,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 539,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "ENST00000704312.1:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515834.1:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912235"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 490,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 490,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "ENST00000394947.8:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378402.3:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394947.8:c.190-3505C="
          },
          "RefSeq": {
            "hgvs": "NM_001145358.2:c.190-3505C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378402.3:n.190-3505C="
          },
          "RefSeq": {
            "hgvs": "NP_001138830.1:n.190-3505C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 371,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 371,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "ENST00000360439.8:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353622.4:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265129"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 504,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 504,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "ENST00000394947.7:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378402.3:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276436"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 448,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 448,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "ENST00000394949.8:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378403.4:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 353,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 353,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "ENST00000562776.5:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455072.1:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 277,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 277,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "ENST00000564778.5:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455204.1:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378318"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 464,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 464,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "ENST00000567289.5:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455834.1:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 462,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 462,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "ENST00000568190.1:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456997.1:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380605"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 417,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 417,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "ENST00000568309.5:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455644.1:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 363,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 363,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "ENST00000568431.5:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454750.1:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380777"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 373,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 373,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "ENST00000570115.5:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455662.1:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381915"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 371,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 371,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "NM_001145357.1:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001138829.1:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 546,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 546,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "NM_001145358.1:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001138830.1:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013612"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 448,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 448,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "NM_015477.2:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "NP_056292.1:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 250,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 250,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "XM_006720465.2:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720528.1:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073676"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 644,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 644,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "XM_006720466.2:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720529.1:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073677"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 434,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 434,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "XM_006720467.2:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720530.1:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 254,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 254,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "XM_006720465.3:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720528.1:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 644,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 644,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "XM_006720466.3:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720529.1:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540105"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 462,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 462,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "XM_006720467.3:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720530.1:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540106"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 385,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "XM_024449896.1:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024305664.1:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583438"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 403,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 403,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "NM_001145357.2:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001138829.1:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677870"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 490,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 490,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "NM_001145358.2:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001138830.1:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677871",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394947.8:c.190-3505C="
          },
          "RefSeq": {
            "hgvs": "NM_001145358.2:c.190-3505C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378402.3:n.190-3505C="
          },
          "RefSeq": {
            "hgvs": "NP_001138830.1:n.190-3505C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 553,
          "endIntronDirection": "-",
          "endIntronOffset": 3504,
          "referenceAllele": "C",
          "start": 553,
          "startIntronDirection": "-",
          "startIntronOffset": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019353",
      "geneNCBI_id": 25942,
      "geneSymbol": "SIN3A",
      "hgvs": [
        "NM_015477.3:c.190-3505C="
      ],
      "proteinEffect": {
        "hgvs": "NP_056292.1:n.190-3505C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697553"
    }
  ],
  "type": "nucleotide"
}