{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3212402671",
  "communityStandardTitle": [
    "NM_001365088.1(SLC12A6):c.2809C= (p.Arg937=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516262",
        "rs": 1057516262
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 34237544,
          "referenceAllele": "G",
          "start": 34237543
        }
      ],
      "hgvs": [
        "NC_000015.10:g.34237544G=",
        "CM000677.2:g.34237544G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 34529745,
          "referenceAllele": "G",
          "start": 34529744
        }
      ],
      "hgvs": [
        "NC_000015.9:g.34529745G=",
        "CM000677.1:g.34529745G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 32317037,
          "referenceAllele": "G",
          "start": 32317036
        }
      ],
      "hgvs": [
        "NC_000015.8:g.32317037G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 105521,
          "referenceAllele": "C",
          "start": 105520
        }
      ],
      "hgvs": [
        "NG_007951.1:g.105521C=",
        "LRG_270:g.105521C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000719"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3331,
          "referenceAllele": "C",
          "start": 3330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000354181.8:c.2809C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346112.3:p.Arg937="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748536",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.2809C="
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.2809C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:p.Arg937="
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:p.Arg937="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3591,
          "referenceAllele": "C",
          "start": 3590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000676379.1:c.2809C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502539.1:p.Arg937="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2757,
          "referenceAllele": "C",
          "start": 2756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000290209.9:c.2656C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290209.5:p.Arg886="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253627"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3302,
          "referenceAllele": "C",
          "start": 3301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000354181.7:c.2809C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346112.3:p.Arg937="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263033"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2830,
          "referenceAllele": "C",
          "start": 2829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000397702.6:c.2632C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380814.2:p.Arg878="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277938"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2928,
          "referenceAllele": "C",
          "start": 2927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000397707.6:c.2764C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380819.2:p.Arg922="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3159,
          "referenceAllele": "C",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000458406.6:c.2632C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387725.2:p.Arg878="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3222,
          "referenceAllele": "C",
          "start": 3221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558589.5:c.2782C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452776.1:p.Arg928="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373919"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2912,
          "referenceAllele": "C",
          "start": 2911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558667.5:c.2809C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453473.1:p.Arg937="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373977"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 172,
          "referenceAllele": "C",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559076.1:n.172C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374288"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 486,
          "referenceAllele": "C",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559441.1:n.486C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374586"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3159,
          "referenceAllele": "C",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559523.5:c.2632C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452904.1:p.Arg878="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3845,
          "referenceAllele": "C",
          "start": 3844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559664.5:c.*18C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453702.1:n.*18C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374763"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2481,
          "referenceAllele": "C",
          "start": 2480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560164.5:c.2245C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452705.1:p.Arg749="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375147"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2973,
          "referenceAllele": "C",
          "start": 2972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560611.5:c.2809C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454168.1:p.Arg937="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375479"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4116,
          "referenceAllele": "C",
          "start": 4115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000561080.5:c.*18C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454069.1:n.*18C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375838"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825408205",
      "coordinates": [
        {
          "allele": "C",
          "end": 3159,
          "referenceAllele": "C",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.1:c.2632C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:p.Arg878="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009723"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825408931",
      "coordinates": [
        {
          "allele": "C",
          "end": 2834,
          "referenceAllele": "C",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.1:c.2632C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:p.Arg878="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825409700",
      "coordinates": [
        {
          "allele": "C",
          "end": 3225,
          "referenceAllele": "C",
          "start": 3224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.1:c.2782C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:p.Arg928="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825410468",
      "coordinates": [
        {
          "allele": "C",
          "end": 2928,
          "referenceAllele": "C",
          "start": 2927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.1:c.2764C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:p.Arg922="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829583925",
      "coordinates": [
        {
          "allele": "C",
          "end": 2798,
          "referenceAllele": "C",
          "start": 2797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_005135.2:c.2656C=",
        "LRG_270t1:c.2656C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005126.1:p.Arg886="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830247692",
      "coordinates": [
        {
          "allele": "C",
          "end": 2973,
          "referenceAllele": "C",
          "start": 2972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.1:c.2809C=",
        "LRG_270t2:c.2809C="
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:p.Arg937="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2668,
          "referenceAllele": "C",
          "start": 2667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.2:c.2662C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:p.Arg888="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073812"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3289,
          "referenceAllele": "C",
          "start": 3288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522267.1:c.2809C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520569.1:p.Arg937="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2978,
          "referenceAllele": "C",
          "start": 2977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522268.1:c.2809C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520570.1:p.Arg937="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089423"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2815,
          "referenceAllele": "C",
          "start": 2814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_429476.2:n.2815C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2815,
          "referenceAllele": "C",
          "start": 2814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931960.1:n.2815C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128014"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828166395",
      "coordinates": [
        {
          "allele": "C",
          "end": 3331,
          "referenceAllele": "C",
          "start": 3330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001365088.1:c.2809C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001352017.1:p.Arg937="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.2809C="
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.2809C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:p.Arg937="
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:p.Arg937="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3909,
          "referenceAllele": "C",
          "start": 3908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.4:c.2662C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:p.Arg888="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540170"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4059,
          "referenceAllele": "C",
          "start": 4058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931960.3:n.4059C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610074"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825408205",
      "coordinates": [
        {
          "allele": "C",
          "end": 3180,
          "referenceAllele": "C",
          "start": 3179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.2:c.2632C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:p.Arg878="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676038"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825408931",
      "coordinates": [
        {
          "allele": "C",
          "end": 2827,
          "referenceAllele": "C",
          "start": 2826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.2:c.2632C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:p.Arg878="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676039"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825409700",
      "coordinates": [
        {
          "allele": "C",
          "end": 3246,
          "referenceAllele": "C",
          "start": 3245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.2:c.2782C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:p.Arg928="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676040"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825410468",
      "coordinates": [
        {
          "allele": "C",
          "end": 3100,
          "referenceAllele": "C",
          "start": 3099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.2:c.2764C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:p.Arg922="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676041"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830247692",
      "coordinates": [
        {
          "allele": "C",
          "end": 3145,
          "referenceAllele": "C",
          "start": 3144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.2:c.2809C="
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:p.Arg937="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729120"
    }
  ],
  "type": "nucleotide"
}