{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1315645080",
  "communityStandardTitle": [
    "NM_014585.6(SLC40A1):c.542A= (p.Asp181=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893672",
        "rs": 104893672
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 189565572,
          "referenceAllele": "T",
          "start": 189565571
        }
      ],
      "hgvs": [
        "NC_000002.12:g.189565572T=",
        "CM000664.2:g.189565572T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 190430298,
          "referenceAllele": "T",
          "start": 190430297
        }
      ],
      "hgvs": [
        "NC_000002.11:g.190430298T=",
        "CM000664.1:g.190430298T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 190138543,
          "referenceAllele": "T",
          "start": 190138542
        }
      ],
      "hgvs": [
        "NC_000002.10:g.190138543T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20240,
          "referenceAllele": "A",
          "start": 20239
        }
      ],
      "hgvs": [
        "NG_009027.1:g.20240A=",
        "LRG_837:g.20240A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001387"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 868,
          "referenceAllele": "A",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010909",
      "geneNCBI_id": 30061,
      "geneSymbol": "SLC40A1",
      "hgvs": [
        "ENST00000261024.7:c.542A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261024.3:p.Asp181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742083",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261024.7:c.542A="
          },
          "RefSeq": {
            "hgvs": "NM_014585.6:c.542A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261024.3:p.Asp181="
          },
          "RefSeq": {
            "hgvs": "NP_055400.1:p.Asp181="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 969,
          "referenceAllele": "A",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010909",
      "geneNCBI_id": 30061,
      "geneSymbol": "SLC40A1",
      "hgvs": [
        "ENST00000261024.6:c.542A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261024.2:p.Asp181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250659"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 765,
          "referenceAllele": "A",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010909",
      "geneNCBI_id": 30061,
      "geneSymbol": "SLC40A1",
      "hgvs": [
        "ENST00000427241.5:c.542A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390005.1:p.Asp181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066520370",
      "coordinates": [
        {
          "allele": "A",
          "end": 893,
          "referenceAllele": "A",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010909",
      "geneNCBI_id": 30061,
      "geneSymbol": "SLC40A1",
      "hgvs": [
        "NM_014585.5:c.542A=",
        "LRG_837t1:c.542A="
      ],
      "proteinEffect": {
        "hgvs": "NP_055400.1:p.Asp181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033280"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1028,
          "referenceAllele": "A",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010909",
      "geneNCBI_id": 30061,
      "geneSymbol": "SLC40A1",
      "hgvs": [
        "XM_005246505.1:c.422A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246562.1:p.Asp141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057652"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1028,
          "referenceAllele": "A",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010909",
      "geneNCBI_id": 30061,
      "geneSymbol": "SLC40A1",
      "hgvs": [
        "XM_005246505.2:c.422A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246562.1:p.Asp141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1142,
          "referenceAllele": "A",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010909",
      "geneNCBI_id": 30061,
      "geneSymbol": "SLC40A1",
      "hgvs": [
        "XM_017003938.2:c.422A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016859427.1:p.Asp141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559552"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066520370",
      "coordinates": [
        {
          "allele": "A",
          "end": 868,
          "referenceAllele": "A",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010909",
      "geneNCBI_id": 30061,
      "geneSymbol": "SLC40A1",
      "hgvs": [
        "NM_014585.6:c.542A="
      ],
      "proteinEffect": {
        "hgvs": "NP_055400.1:p.Asp181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697287",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261024.7:c.542A="
          },
          "RefSeq": {
            "hgvs": "NM_014585.6:c.542A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261024.3:p.Asp181="
          },
          "RefSeq": {
            "hgvs": "NP_055400.1:p.Asp181="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}