{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1873291458",
  "communityStandardTitle": [
    "NM_001859.4(SLC31A1):c.-36+2451T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10981694",
        "rs": 10981694
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 113224129,
          "referenceAllele": "T",
          "start": 113224128
        }
      ],
      "hgvs": [
        "NC_000009.12:g.113224129T=",
        "CM000671.2:g.113224129T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 115986409,
          "referenceAllele": "T",
          "start": 115986408
        }
      ],
      "hgvs": [
        "NC_000009.11:g.115986409T=",
        "CM000671.1:g.115986409T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 115026230,
          "referenceAllele": "T",
          "start": 115026229
        }
      ],
      "hgvs": [
        "NC_000009.10:g.115026230T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 135,
          "endIntronDirection": "+",
          "endIntronOffset": 2451,
          "referenceAllele": "T",
          "start": 135,
          "startIntronDirection": "+",
          "startIntronOffset": 2450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011016",
      "geneNCBI_id": 1317,
      "geneSymbol": "SLC31A1",
      "hgvs": [
        "ENST00000374212.5:c.-36+2451T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363329.4:n.-36+2451T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751390",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374212.5:c.-36+2451T="
          },
          "RefSeq": {
            "hgvs": "NM_001859.4:c.-36+2451T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363329.4:n.-36+2451T="
          },
          "RefSeq": {
            "hgvs": "NP_001850.1:n.-36+2451T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 117,
          "endIntronDirection": "+",
          "endIntronOffset": 2451,
          "referenceAllele": "T",
          "start": 117,
          "startIntronDirection": "+",
          "startIntronOffset": 2450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011016",
      "geneNCBI_id": 1317,
      "geneSymbol": "SLC31A1",
      "hgvs": [
        "ENST00000374212.4:c.-36+2451T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363329.4:n.-36+2451T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 92,
          "endIntronDirection": "+",
          "endIntronOffset": 2451,
          "referenceAllele": "T",
          "start": 92,
          "startIntronDirection": "+",
          "startIntronOffset": 2450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011016",
      "geneNCBI_id": 1317,
      "geneSymbol": "SLC31A1",
      "hgvs": [
        "ENST00000496650.1:n.92+2451T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333065"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 151,
          "endIntronDirection": "+",
          "endIntronOffset": 2451,
          "referenceAllele": "T",
          "start": 151,
          "startIntronDirection": "+",
          "startIntronOffset": 2450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011016",
      "geneNCBI_id": 1317,
      "geneSymbol": "SLC31A1",
      "hgvs": [
        "NM_001859.3:c.-36+2451T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001850.1:n.-36+2451T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027186"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 166,
          "endIntronDirection": "-",
          "endIntronOffset": 803,
          "referenceAllele": "A",
          "start": 166,
          "startIntronDirection": "-",
          "startIntronOffset": 804
        }
      ],
      "hgvs": [
        "XR_002956933.1:n.167-804A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 135,
          "endIntronDirection": "+",
          "endIntronOffset": 2451,
          "referenceAllele": "T",
          "start": 135,
          "startIntronDirection": "+",
          "startIntronOffset": 2450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011016",
      "geneNCBI_id": 1317,
      "geneSymbol": "SLC31A1",
      "hgvs": [
        "NM_001859.4:c.-36+2451T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001850.1:n.-36+2451T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665213",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374212.5:c.-36+2451T="
          },
          "RefSeq": {
            "hgvs": "NM_001859.4:c.-36+2451T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363329.4:n.-36+2451T="
          },
          "RefSeq": {
            "hgvs": "NP_001850.1:n.-36+2451T="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}