{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5710568",
  "communityStandardTitle": [
    "NM_003054.6(SLC18A2):c.1122+20T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1156361[alleleid]",
        "alleleId": 1156361,
        "preferredName": "NM_003054.6(SLC18A2):c.1122+20T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1168195",
        "RCV": [
          "RCV001518234",
          "RCV001579760"
        ],
        "variationId": 1168195
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-119026566-T-C",
        "id": "10-119026566-T-C",
        "variant": "10:119026566 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.119026566T>C?assembly=hg19",
        "id": "chr10:g.119026566T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.117267055T>C?assembly=hg38",
        "id": "chr10:g.117267055T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/363227",
        "rs": 363227
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-119026566-T-C?dataset=gnomad_r2_1",
        "id": "10-119026566-T-C",
        "variant": "10:119026566 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-117267055-T-C?dataset=gnomad_r3",
        "id": "10-117267055-T-C",
        "variant": "10:117267055 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-117267055-T-C?dataset=gnomad_r4",
        "id": "10-117267055-T-C",
        "variant": "10:117267055 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 117267055,
          "referenceAllele": "T",
          "start": 117267054
        }
      ],
      "hgvs": [
        "NC_000010.11:g.117267055T>C",
        "CM000672.2:g.117267055T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 119026566,
          "referenceAllele": "T",
          "start": 119026565
        }
      ],
      "hgvs": [
        "NC_000010.10:g.119026566T>C",
        "CM000672.1:g.119026566T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 119016556,
          "referenceAllele": "T",
          "start": 119016555
        }
      ],
      "hgvs": [
        "NC_000010.9:g.119016556T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1244,
          "endIntronDirection": "+",
          "endIntronOffset": 20,
          "referenceAllele": "T",
          "start": 1244,
          "startIntronDirection": "+",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010935",
      "geneNCBI_id": 6571,
      "geneSymbol": "SLC18A2",
      "hgvs": [
        "ENST00000644641.2:c.1122+20T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496339.1:n.1122+20T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767914",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644641.2:c.1122+20T>C"
          },
          "RefSeq": {
            "hgvs": "NM_003054.6:c.1122+20T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496339.1:n.1122+20T>C"
          },
          "RefSeq": {
            "hgvs": "NP_003045.2:n.1122+20T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1265,
          "endIntronDirection": "+",
          "endIntronOffset": 20,
          "referenceAllele": "T",
          "start": 1265,
          "startIntronDirection": "+",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010935",
      "geneNCBI_id": 6571,
      "geneSymbol": "SLC18A2",
      "hgvs": [
        "ENST00000298472.9:c.1122+20T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298472.5:n.1122+20T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254594"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1538,
          "endIntronDirection": "+",
          "endIntronOffset": 20,
          "referenceAllele": "T",
          "start": 1538,
          "startIntronDirection": "+",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010935",
      "geneNCBI_id": 6571,
      "geneSymbol": "SLC18A2",
      "hgvs": [
        "ENST00000497497.1:n.1538+20T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333720"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1285,
          "endIntronDirection": "+",
          "endIntronOffset": 20,
          "referenceAllele": "T",
          "start": 1285,
          "startIntronDirection": "+",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010935",
      "geneNCBI_id": 6571,
      "geneSymbol": "SLC18A2",
      "hgvs": [
        "NM_003054.4:c.1122+20T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003045.2:n.1122+20T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028334"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1244,
          "endIntronDirection": "+",
          "endIntronOffset": 20,
          "referenceAllele": "T",
          "start": 1244,
          "startIntronDirection": "+",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010935",
      "geneNCBI_id": 6571,
      "geneSymbol": "SLC18A2",
      "hgvs": [
        "NM_003054.5:c.1122+20T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003045.2:n.1122+20T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1244,
          "endIntronDirection": "+",
          "endIntronOffset": 20,
          "referenceAllele": "T",
          "start": 1244,
          "startIntronDirection": "+",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010935",
      "geneNCBI_id": 6571,
      "geneSymbol": "SLC18A2",
      "hgvs": [
        "NM_003054.6:c.1122+20T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003045.2:n.1122+20T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644641.2:c.1122+20T>C"
          },
          "RefSeq": {
            "hgvs": "NM_003054.6:c.1122+20T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496339.1:n.1122+20T>C"
          },
          "RefSeq": {
            "hgvs": "NP_003045.2:n.1122+20T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}