{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2224353963",
  "communityStandardTitle": [
    "NM_001126108.2(SLC12A3):c.1387G= (p.Gly463=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374163823",
        "rs": 374163823
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 56879593,
          "referenceAllele": "G",
          "start": 56879592
        }
      ],
      "hgvs": [
        "NC_000016.10:g.56879593G=",
        "CM000678.2:g.56879593G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 56913505,
          "referenceAllele": "G",
          "start": 56913504
        }
      ],
      "hgvs": [
        "NC_000016.9:g.56913505G=",
        "CM000678.1:g.56913505G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 55471006,
          "referenceAllele": "G",
          "start": 55471005
        }
      ],
      "hgvs": [
        "NC_000016.8:g.55471006G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 19387,
          "referenceAllele": "G",
          "start": 19386
        }
      ],
      "hgvs": [
        "NG_009386.1:g.19387G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001588"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 19387,
          "referenceAllele": "G",
          "start": 19386
        }
      ],
      "hgvs": [
        "NG_009386.2:g.19387G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706095"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1416,
          "referenceAllele": "G",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "ENST00000563236.6:c.1387G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456149.2:p.Gly463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760388",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000563236.6:c.1387G="
          },
          "RefSeq": {
            "hgvs": "NM_001126108.2:c.1387G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000456149.2:p.Gly463="
          },
          "RefSeq": {
            "hgvs": "NP_001119580.2:p.Gly463="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1409,
          "referenceAllele": "G",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "ENST00000262502.5:c.1384G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262502.5:p.Gly462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251040"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1416,
          "referenceAllele": "G",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "ENST00000438926.6:c.1387G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402152.2:p.Gly463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1412,
          "referenceAllele": "G",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "ENST00000563236.5:c.1387G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456149.1:p.Gly463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377286"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1413,
          "referenceAllele": "G",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "ENST00000566786.5:c.1384G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457552.1:p.Gly462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1416,
          "referenceAllele": "G",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_000339.2:c.1387G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000330.2:p.Gly463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1413,
          "referenceAllele": "G",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_001126107.1:c.1384G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001119579.1:p.Gly462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011487"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1416,
          "referenceAllele": "G",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_001126108.1:c.1387G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001119580.1:p.Gly463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011488"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1413,
          "referenceAllele": "G",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "XM_005256119.1:c.1384G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005256176.1:p.Gly462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1413,
          "referenceAllele": "G",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "XM_005256119.2:c.1384G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005256176.1:p.Gly462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534392"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082905421",
      "coordinates": [
        {
          "allele": "G",
          "end": 1416,
          "referenceAllele": "G",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_000339.3:c.1387G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000330.3:p.Gly463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674797"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1413,
          "referenceAllele": "G",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_001126107.2:c.1384G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001119579.2:p.Gly462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676821"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1416,
          "referenceAllele": "G",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_001126108.2:c.1387G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001119580.2:p.Gly463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676822",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000563236.6:c.1387G="
          },
          "RefSeq": {
            "hgvs": "NM_001126108.2:c.1387G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000456149.2:p.Gly463="
          },
          "RefSeq": {
            "hgvs": "NP_001119580.2:p.Gly463="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}