{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14397793",
  "communityStandardTitle": [
    "NM_018242.3(SLC47A1):c.-66T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.19437187T>C?assembly=hg19",
        "id": "chr17:g.19437187T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.19533874T>C?assembly=hg38",
        "id": "chr17:g.19533874T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2252281",
        "rs": 2252281
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-19437187-T-C?dataset=gnomad_r2_1",
        "id": "17-19437187-T-C",
        "variant": "17:19437187 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-19533874-T-C?dataset=gnomad_r3",
        "id": "17-19533874-T-C",
        "variant": "17:19533874 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-19533874-T-C?dataset=gnomad_r4",
        "id": "17-19533874-T-C",
        "variant": "17:19533874 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 19533874,
          "referenceAllele": "T",
          "start": 19533873
        }
      ],
      "hgvs": [
        "NC_000017.11:g.19533874T>C",
        "CM000679.2:g.19533874T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 19437187,
          "referenceAllele": "T",
          "start": 19437186
        }
      ],
      "hgvs": [
        "NC_000017.10:g.19437187T>C",
        "CM000679.1:g.19437187T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 19377779,
          "referenceAllele": "T",
          "start": 19377778
        }
      ],
      "hgvs": [
        "NC_000017.9:g.19377779T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 21,
          "referenceAllele": "T",
          "start": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025588",
      "geneNCBI_id": 55244,
      "geneSymbol": "SLC47A1",
      "hgvs": [
        "ENST00000270570.8:c.-66T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000270570.4:n.-66T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252259",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270570.8:c.-66T>C"
          },
          "RefSeq": {
            "hgvs": "NM_018242.3:c.-66T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270570.4:n.-66T>C"
          },
          "RefSeq": {
            "hgvs": "NP_060712.2:n.-66T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 47,
          "referenceAllele": "T",
          "start": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025588",
      "geneNCBI_id": 55244,
      "geneSymbol": "SLC47A1",
      "hgvs": [
        "ENST00000436810.6:c.-66T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407155.2:n.-66T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294160"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 110,
          "endIntronDirection": "+",
          "endIntronOffset": 303,
          "referenceAllele": "T",
          "start": 110,
          "startIntronDirection": "+",
          "startIntronOffset": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025588",
      "geneNCBI_id": 55244,
      "geneSymbol": "SLC47A1",
      "hgvs": [
        "ENST00000571335.5:c.-311+303T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462630.1:n.-311+303T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382468"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15,
          "referenceAllele": "T",
          "start": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025588",
      "geneNCBI_id": 55244,
      "geneSymbol": "SLC47A1",
      "hgvs": [
        "ENST00000574596.1:n.15T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383755"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 97,
          "endIntronDirection": "-",
          "endIntronOffset": 8518,
          "referenceAllele": "T",
          "start": 97,
          "startIntronDirection": "-",
          "startIntronOffset": 8519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025588",
      "geneNCBI_id": 55244,
      "geneSymbol": "SLC47A1",
      "hgvs": [
        "ENST00000584348.5:n.98-8519T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 21,
          "referenceAllele": "T",
          "start": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025588",
      "geneNCBI_id": 55244,
      "geneSymbol": "SLC47A1",
      "hgvs": [
        "NM_018242.2:c.-66T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060712.2:n.-66T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 21,
          "referenceAllele": "T",
          "start": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025588",
      "geneNCBI_id": 55244,
      "geneSymbol": "SLC47A1",
      "hgvs": [
        "NM_018242.3:c.-66T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060712.2:n.-66T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669578",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270570.8:c.-66T>C"
          },
          "RefSeq": {
            "hgvs": "NM_018242.3:c.-66T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270570.4:n.-66T>C"
          },
          "RefSeq": {
            "hgvs": "NP_060712.2:n.-66T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}