{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2254288724",
  "communityStandardTitle": [
    "NM_080669.6(SLC46A1):c.337C= (p.Arg113=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338770",
        "rs": 80338770
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 28405360,
          "referenceAllele": "G",
          "start": 28405359
        }
      ],
      "hgvs": [
        "NC_000017.11:g.28405360G=",
        "CM000679.2:g.28405360G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 26732378,
          "referenceAllele": "G",
          "start": 26732377
        }
      ],
      "hgvs": [
        "NC_000017.10:g.26732378G=",
        "CM000679.1:g.26732378G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 23756505,
          "referenceAllele": "G",
          "start": 23756504
        }
      ],
      "hgvs": [
        "NC_000017.9:g.23756505G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5851,
          "referenceAllele": "C",
          "start": 5850
        }
      ],
      "hgvs": [
        "NG_013306.1:g.5851C=",
        "LRG_183:g.5851C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002781"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030521",
      "geneNCBI_id": 113235,
      "geneSymbol": "SLC46A1",
      "hgvs": [
        "ENST00000612814.5:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480703.1:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761894",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000612814.5:c.337C="
          },
          "RefSeq": {
            "hgvs": "NM_080669.6:c.337C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000480703.1:p.Arg113="
          },
          "RefSeq": {
            "hgvs": "NP_542400.2:p.Arg113="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 67,
          "endIntronDirection": "+",
          "endIntronOffset": 321,
          "referenceAllele": "C",
          "start": 67,
          "startIntronDirection": "+",
          "startIntronOffset": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030521",
      "geneNCBI_id": 113235,
      "geneSymbol": "SLC46A1",
      "hgvs": [
        "ENST00000578217.1:n.67+321C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385247"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030521",
      "geneNCBI_id": 113235,
      "geneSymbol": "SLC46A1",
      "hgvs": [
        "ENST00000582590.1:n.391C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387343"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 252,
          "referenceAllele": "C",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030521",
      "geneNCBI_id": 113235,
      "geneSymbol": "SLC46A1",
      "hgvs": [
        "ENST00000584426.1:c.73C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467416.1:p.Arg25="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388212"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 394,
          "referenceAllele": "C",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030521",
      "geneNCBI_id": 113235,
      "geneSymbol": "SLC46A1",
      "hgvs": [
        "ENST00000584995.5:c.115C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464190.1:p.Arg39="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 433,
          "referenceAllele": "C",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030521",
      "geneNCBI_id": 113235,
      "geneSymbol": "SLC46A1",
      "hgvs": [
        "ENST00000612814.4:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480703.1:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401470"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 424,
          "referenceAllele": "C",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030521",
      "geneNCBI_id": 113235,
      "geneSymbol": "SLC46A1",
      "hgvs": [
        "ENST00000618626.1:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483652.1:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030521",
      "geneNCBI_id": 113235,
      "geneSymbol": "SLC46A1",
      "hgvs": [
        "NM_001242366.2:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229295.1:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018090"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083967989",
      "coordinates": [
        {
          "allele": "C",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030521",
      "geneNCBI_id": 113235,
      "geneSymbol": "SLC46A1",
      "hgvs": [
        "NM_080669.5:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "NP_542400.2:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030521",
      "geneNCBI_id": 113235,
      "geneSymbol": "SLC46A1",
      "hgvs": [
        "XM_005277786.2:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005277843.1:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068455"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030521",
      "geneNCBI_id": 113235,
      "geneSymbol": "SLC46A1",
      "hgvs": [
        "XM_005277786.3:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005277843.1:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537705"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 394,
          "referenceAllele": "C",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030521",
      "geneNCBI_id": 113235,
      "geneSymbol": "SLC46A1",
      "hgvs": [
        "XM_017024110.1:c.115C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016879599.1:p.Arg39="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083967989",
      "coordinates": [
        {
          "allele": "C",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030521",
      "geneNCBI_id": 113235,
      "geneSymbol": "SLC46A1",
      "hgvs": [
        "NM_080669.6:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "NP_542400.2:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671753",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000612814.5:c.337C="
          },
          "RefSeq": {
            "hgvs": "NM_080669.6:c.337C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000480703.1:p.Arg113="
          },
          "RefSeq": {
            "hgvs": "NP_542400.2:p.Arg113="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030521",
      "geneNCBI_id": 113235,
      "geneSymbol": "SLC46A1",
      "hgvs": [
        "NM_001242366.3:c.337C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229295.1:p.Arg113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680059"
    }
  ],
  "type": "nucleotide"
}