{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1315650379",
  "communityStandardTitle": [
    "NM_014585.6(SLC40A1):c.470A= (p.Asp157=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893663",
        "rs": 104893663
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 189571759,
          "referenceAllele": "T",
          "start": 189571758
        }
      ],
      "hgvs": [
        "NC_000002.12:g.189571759T=",
        "CM000664.2:g.189571759T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 190436485,
          "referenceAllele": "T",
          "start": 190436484
        }
      ],
      "hgvs": [
        "NC_000002.11:g.190436485T=",
        "CM000664.1:g.190436485T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 190144730,
          "referenceAllele": "T",
          "start": 190144729
        }
      ],
      "hgvs": [
        "NC_000002.10:g.190144730T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14053,
          "referenceAllele": "A",
          "start": 14052
        }
      ],
      "hgvs": [
        "NG_009027.1:g.14053A=",
        "LRG_837:g.14053A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001387"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 796,
          "referenceAllele": "A",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010909",
      "geneNCBI_id": 30061,
      "geneSymbol": "SLC40A1",
      "hgvs": [
        "ENST00000261024.7:c.470A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261024.3:p.Asp157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742083",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261024.7:c.470A="
          },
          "RefSeq": {
            "hgvs": "NM_014585.6:c.470A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261024.3:p.Asp157="
          },
          "RefSeq": {
            "hgvs": "NP_055400.1:p.Asp157="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 897,
          "referenceAllele": "A",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010909",
      "geneNCBI_id": 30061,
      "geneSymbol": "SLC40A1",
      "hgvs": [
        "ENST00000261024.6:c.470A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261024.2:p.Asp157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250659"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 693,
          "referenceAllele": "A",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010909",
      "geneNCBI_id": 30061,
      "geneSymbol": "SLC40A1",
      "hgvs": [
        "ENST00000427241.5:c.470A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390005.1:p.Asp157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829756086",
      "coordinates": [
        {
          "allele": "A",
          "end": 821,
          "referenceAllele": "A",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010909",
      "geneNCBI_id": 30061,
      "geneSymbol": "SLC40A1",
      "hgvs": [
        "NM_014585.5:c.470A=",
        "LRG_837t1:c.470A="
      ],
      "proteinEffect": {
        "hgvs": "NP_055400.1:p.Asp157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033280"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 956,
          "referenceAllele": "A",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010909",
      "geneNCBI_id": 30061,
      "geneSymbol": "SLC40A1",
      "hgvs": [
        "XM_005246505.1:c.350A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246562.1:p.Asp117="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057652"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 956,
          "referenceAllele": "A",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010909",
      "geneNCBI_id": 30061,
      "geneSymbol": "SLC40A1",
      "hgvs": [
        "XM_005246505.2:c.350A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246562.1:p.Asp117="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1070,
          "referenceAllele": "A",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010909",
      "geneNCBI_id": 30061,
      "geneSymbol": "SLC40A1",
      "hgvs": [
        "XM_017003938.2:c.350A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016859427.1:p.Asp117="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559552"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829756086",
      "coordinates": [
        {
          "allele": "A",
          "end": 796,
          "referenceAllele": "A",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010909",
      "geneNCBI_id": 30061,
      "geneSymbol": "SLC40A1",
      "hgvs": [
        "NM_014585.6:c.470A="
      ],
      "proteinEffect": {
        "hgvs": "NP_055400.1:p.Asp157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697287",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261024.7:c.470A="
          },
          "RefSeq": {
            "hgvs": "NM_014585.6:c.470A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261024.3:p.Asp157="
          },
          "RefSeq": {
            "hgvs": "NP_055400.1:p.Asp157="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}