{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA443240498",
  "communityStandardTitle": [
    "NM_001044.5(SLC6A3):c.253C>A (p.Arg85=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1443060G>T?assembly=hg19",
        "id": "chr5:g.1443060G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064795122",
        "rs": 1064795122
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-1442945-G-T?dataset=gnomad_r4",
        "id": "5-1442945-G-T",
        "variant": "5:1442945 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 1442945,
          "referenceAllele": "G",
          "start": 1442944
        }
      ],
      "hgvs": [
        "NC_000005.10:g.1442945G>T",
        "CM000667.2:g.1442945G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 1443060,
          "referenceAllele": "G",
          "start": 1443059
        }
      ],
      "hgvs": [
        "NC_000005.9:g.1443060G>T",
        "CM000667.1:g.1443060G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 1496060,
          "referenceAllele": "G",
          "start": 1496059
        }
      ],
      "hgvs": [
        "NC_000005.8:g.1496060G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7484,
          "referenceAllele": "C",
          "start": 7483
        }
      ],
      "hgvs": [
        "NG_015885.1:g.7484C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002903"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011049",
      "geneNCBI_id": 6531,
      "geneSymbol": "SLC6A3",
      "hgvs": [
        "ENST00000270349.12:c.253C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270349.9:p.Arg85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743156",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270349.12:c.253C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001044.5:c.253C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270349.9:p.Arg85="
          },
          "RefSeq": {
            "hgvs": "NP_001035.1:p.Arg85="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011049",
      "geneNCBI_id": 6531,
      "geneSymbol": "SLC6A3",
      "hgvs": [
        "ENST00000270349.11:c.253C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270349.9:p.Arg85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252241"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3071246494",
      "coordinates": [
        {
          "allele": "A",
          "end": 379,
          "referenceAllele": "C",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011049",
      "geneNCBI_id": 6531,
      "geneSymbol": "SLC6A3",
      "hgvs": [
        "NM_001044.4:c.253C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035.1:p.Arg85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009829"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3071246494",
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011049",
      "geneNCBI_id": 6531,
      "geneSymbol": "SLC6A3",
      "hgvs": [
        "NM_001044.5:c.253C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035.1:p.Arg85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663201",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270349.12:c.253C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001044.5:c.253C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270349.9:p.Arg85="
          },
          "RefSeq": {
            "hgvs": "NP_001035.1:p.Arg85="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}