{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2176996419",
  "communityStandardTitle": [
    "NM_013243.4(SCG3):c.82+190A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/16964476",
        "rs": 16964476
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 51682027,
          "referenceAllele": "A",
          "start": 51682026
        }
      ],
      "hgvs": [
        "NC_000015.10:g.51682027A=",
        "CM000677.2:g.51682027A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 51974224,
          "referenceAllele": "A",
          "start": 51974223
        }
      ],
      "hgvs": [
        "NC_000015.9:g.51974224A=",
        "CM000677.1:g.51974224A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 49761516,
          "referenceAllele": "A",
          "start": 49761515
        }
      ],
      "hgvs": [
        "NC_000015.8:g.49761516A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5675,
          "referenceAllele": "A",
          "start": 5674
        }
      ],
      "hgvs": [
        "NG_013214.1:g.5675A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 335,
          "endIntronDirection": "+",
          "endIntronOffset": 190,
          "referenceAllele": "A",
          "start": 335,
          "startIntronDirection": "+",
          "startIntronOffset": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013707",
      "geneNCBI_id": 29106,
      "geneSymbol": "SCG3",
      "hgvs": [
        "ENST00000220478.8:c.82+190A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000220478.3:n.82+190A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740457",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000220478.8:c.82+190A="
          },
          "RefSeq": {
            "hgvs": "NM_013243.4:c.82+190A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000220478.3:n.82+190A="
          },
          "RefSeq": {
            "hgvs": "NP_037375.2:n.82+190A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 485,
          "endIntronDirection": "+",
          "endIntronOffset": 190,
          "referenceAllele": "A",
          "start": 485,
          "startIntronDirection": "+",
          "startIntronOffset": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013707",
      "geneNCBI_id": 29106,
      "geneSymbol": "SCG3",
      "hgvs": [
        "ENST00000220478.7:c.82+190A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000220478.3:n.82+190A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 346,
          "endIntronDirection": "+",
          "endIntronOffset": 190,
          "referenceAllele": "A",
          "start": 346,
          "startIntronDirection": "+",
          "startIntronOffset": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013707",
      "geneNCBI_id": 29106,
      "geneSymbol": "SCG3",
      "hgvs": [
        "ENST00000542355.6:c.-562+190A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445205.2:n.-562+190A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 306,
          "endIntronDirection": "+",
          "endIntronOffset": 190,
          "referenceAllele": "A",
          "start": 306,
          "startIntronDirection": "+",
          "startIntronOffset": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013707",
      "geneNCBI_id": 29106,
      "geneSymbol": "SCG3",
      "hgvs": [
        "ENST00000558709.1:c.-419+190A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452745.1:n.-419+190A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 485,
          "endIntronDirection": "+",
          "endIntronOffset": 190,
          "referenceAllele": "A",
          "start": 485,
          "startIntronDirection": "+",
          "startIntronOffset": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013707",
      "geneNCBI_id": 29106,
      "geneSymbol": "SCG3",
      "hgvs": [
        "NM_001165257.1:c.-562+190A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001158729.1:n.-562+190A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 485,
          "endIntronDirection": "+",
          "endIntronOffset": 190,
          "referenceAllele": "A",
          "start": 485,
          "startIntronDirection": "+",
          "startIntronOffset": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013707",
      "geneNCBI_id": 29106,
      "geneSymbol": "SCG3",
      "hgvs": [
        "NM_013243.3:c.82+190A="
      ],
      "proteinEffect": {
        "hgvs": "NP_037375.2:n.82+190A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 335,
          "endIntronDirection": "+",
          "endIntronOffset": 190,
          "referenceAllele": "A",
          "start": 335,
          "startIntronDirection": "+",
          "startIntronOffset": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013707",
      "geneNCBI_id": 29106,
      "geneSymbol": "SCG3",
      "hgvs": [
        "NM_013243.4:c.82+190A="
      ],
      "proteinEffect": {
        "hgvs": "NP_037375.2:n.82+190A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668075",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000220478.8:c.82+190A="
          },
          "RefSeq": {
            "hgvs": "NM_013243.4:c.82+190A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000220478.3:n.82+190A="
          },
          "RefSeq": {
            "hgvs": "NP_037375.2:n.82+190A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 335,
          "endIntronDirection": "+",
          "endIntronOffset": 190,
          "referenceAllele": "A",
          "start": 335,
          "startIntronDirection": "+",
          "startIntronOffset": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013707",
      "geneNCBI_id": 29106,
      "geneSymbol": "SCG3",
      "hgvs": [
        "NM_001165257.2:c.-562+190A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001158729.1:n.-562+190A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713139"
    }
  ],
  "type": "nucleotide"
}