{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2175420264",
  "communityStandardTitle": [
    "NM_000338.3(SLC12A1):c.1883C= (p.Ala628=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057520301",
        "rs": 1057520301
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 48251711,
          "referenceAllele": "C",
          "start": 48251710
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48251711C=",
        "CM000677.2:g.48251711C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 48543908,
          "referenceAllele": "C",
          "start": 48543907
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48543908C=",
        "CM000677.1:g.48543908C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 46331200,
          "referenceAllele": "C",
          "start": 46331199
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46331200C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50411,
          "referenceAllele": "C",
          "start": 50410
        }
      ],
      "hgvs": [
        "NG_021301.1:g.50411C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003546"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2098,
          "referenceAllele": "C",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000686073.1:c.1883C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508901.1:p.Ala628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2098,
          "referenceAllele": "C",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000380993.8:c.1883C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370381.3:p.Ala628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752470",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380993.8:c.1883C="
          },
          "RefSeq": {
            "hgvs": "NM_000338.3:c.1883C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370381.3:p.Ala628="
          },
          "RefSeq": {
            "hgvs": "NP_000329.2:p.Ala628="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2413,
          "referenceAllele": "C",
          "start": 2412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000646012.1:c.2021C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495813.1:p.Ala674="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2392,
          "referenceAllele": "C",
          "start": 2391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000647232.1:c.1883C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493875.1:p.Ala628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769300"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2241,
          "referenceAllele": "C",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000647546.1:c.1883C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495332.1:p.Ala628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769476"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2099,
          "referenceAllele": "C",
          "start": 2098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000380993.7:c.1883C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370381.3:p.Ala628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273173"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2098,
          "referenceAllele": "C",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000396577.7:c.1883C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379822.3:p.Ala628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277336"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6006,
          "referenceAllele": "C",
          "start": 6005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000558252.5:n.6006C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373663"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1897,
          "referenceAllele": "C",
          "start": 1896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000558405.5:c.1883C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453409.1:p.Ala628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373773"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000559641.5:c.1322C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453230.1:p.Ala441="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6022,
          "referenceAllele": "C",
          "start": 6021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000560692.5:n.6022C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082261515",
      "coordinates": [
        {
          "allele": "C",
          "end": 2099,
          "referenceAllele": "C",
          "start": 2098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "NM_000338.2:c.1883C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000329.2:p.Ala628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2099,
          "referenceAllele": "C",
          "start": 2098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "NM_001184832.1:c.1883C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171761.1:p.Ala628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2195,
          "referenceAllele": "C",
          "start": 2194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "XM_005254605.1:c.1979C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005254662.1:p.Ala660="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060682"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2099,
          "referenceAllele": "C",
          "start": 2098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "XM_005254606.1:c.1883C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005254663.1:p.Ala628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2195,
          "referenceAllele": "C",
          "start": 2194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "XM_006720656.1:c.1979C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720719.1:p.Ala660="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073748"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2195,
          "referenceAllele": "C",
          "start": 2194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "XR_931896.1:n.2195C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127969"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2098,
          "referenceAllele": "C",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "XM_005254606.2:c.1883C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005254663.1:p.Ala628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082261515",
      "coordinates": [
        {
          "allele": "C",
          "end": 2098,
          "referenceAllele": "C",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "NM_000338.3:c.1883C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000329.2:p.Ala628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674796",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380993.8:c.1883C="
          },
          "RefSeq": {
            "hgvs": "NM_000338.3:c.1883C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370381.3:p.Ala628="
          },
          "RefSeq": {
            "hgvs": "NP_000329.2:p.Ala628="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2098,
          "referenceAllele": "C",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "NM_001184832.2:c.1883C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171761.1:p.Ala628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2098,
          "referenceAllele": "C",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "NM_001384136.1:c.1883C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001371065.1:p.Ala628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722663"
    }
  ],
  "type": "nucleotide"
}