{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2175391490",
  "communityStandardTitle": [
    "NM_000338.3(SLC12A1):c.724+4A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/774515747",
        "rs": 774515747
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 48226575,
          "referenceAllele": "A",
          "start": 48226574
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48226575A=",
        "CM000677.2:g.48226575A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 48518772,
          "referenceAllele": "A",
          "start": 48518771
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48518772A=",
        "CM000677.1:g.48518772A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 46306064,
          "referenceAllele": "A",
          "start": 46306063
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46306064A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25275,
          "referenceAllele": "A",
          "start": 25274
        }
      ],
      "hgvs": [
        "NG_021301.1:g.25275A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003546"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 939,
          "endIntronDirection": "+",
          "endIntronOffset": 628,
          "referenceAllele": "A",
          "start": 939,
          "startIntronDirection": "+",
          "startIntronOffset": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000686073.1:c.724+628A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508901.1:n.724+628A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 939,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 939,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000380993.8:c.724+4A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370381.3:n.724+4A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752470",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380993.8:c.724+4A="
          },
          "RefSeq": {
            "hgvs": "NM_000338.3:c.724+4A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370381.3:n.724+4A="
          },
          "RefSeq": {
            "hgvs": "NP_000329.2:n.724+4A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1254,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1254,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000646012.1:c.862+4A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495813.1:n.862+4A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1137,
          "endIntronDirection": "-",
          "endIntronOffset": 503,
          "referenceAllele": "A",
          "start": 1137,
          "startIntronDirection": "-",
          "startIntronOffset": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000647232.1:c.629-504A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493875.1:n.629-504A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1082,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1082,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000647546.1:c.724+4A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495332.1:n.724+4A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 910,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 910,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000330289.10:c.724+4A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331550.6:n.724+4A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 940,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 940,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000380993.7:c.724+4A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370381.3:n.724+4A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 843,
          "endIntronDirection": "-",
          "endIntronOffset": 503,
          "referenceAllele": "A",
          "start": 843,
          "startIntronDirection": "-",
          "startIntronOffset": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000396577.7:c.629-504A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379822.3:n.629-504A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4248,
          "referenceAllele": "A",
          "start": 4247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000558252.5:n.4248A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373663"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 738,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 738,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000558405.5:c.724+4A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453409.1:n.724+4A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373773"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 393,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 393,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000559641.5:c.163+4A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453230.1:n.163+4A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 97,
          "endIntronDirection": "+",
          "endIntronOffset": 628,
          "referenceAllele": "A",
          "start": 97,
          "startIntronDirection": "+",
          "startIntronOffset": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000559723.2:n.97+628A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374809"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2250,
          "referenceAllele": "A",
          "start": 2249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000560692.5:n.2250A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 486,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 486,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "ENST00000561127.5:c.163+4A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453602.2:n.163+4A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 940,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 940,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "NM_000338.2:c.724+4A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000329.2:n.724+4A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 844,
          "endIntronDirection": "-",
          "endIntronOffset": 503,
          "referenceAllele": "A",
          "start": 844,
          "startIntronDirection": "-",
          "startIntronOffset": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "NM_001184832.1:c.629-504A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171761.1:n.629-504A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 940,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 940,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "XM_005254605.1:c.724+4A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005254662.1:n.724+4A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060682"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 940,
          "endIntronDirection": "+",
          "endIntronOffset": 628,
          "referenceAllele": "A",
          "start": 940,
          "startIntronDirection": "+",
          "startIntronOffset": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "XM_005254606.1:c.724+628A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005254663.1:n.724+628A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 940,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 940,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "XM_006720656.1:c.724+4A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720719.1:n.724+4A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 940,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 940,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "XR_931896.1:n.940+4A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127969"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 939,
          "endIntronDirection": "+",
          "endIntronOffset": 628,
          "referenceAllele": "A",
          "start": 939,
          "startIntronDirection": "+",
          "startIntronOffset": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "XM_005254606.2:c.724+628A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005254663.1:n.724+628A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534145"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 886,
          "referenceAllele": "T",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 885
        }
      ],
      "hgvs": [
        "XR_001751524.2:n.363+886T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 886,
          "referenceAllele": "T",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 885
        }
      ],
      "hgvs": [
        "XR_001751525.1:n.363+886T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 886,
          "referenceAllele": "T",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 885
        }
      ],
      "hgvs": [
        "XR_002957762.1:n.363+886T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 357,
          "endIntronDirection": "+",
          "endIntronOffset": 886,
          "referenceAllele": "T",
          "start": 357,
          "startIntronDirection": "+",
          "startIntronOffset": 885
        }
      ],
      "hgvs": [
        "XR_932204.3:n.357+886T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 939,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 939,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "NM_000338.3:c.724+4A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000329.2:n.724+4A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674796",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380993.8:c.724+4A="
          },
          "RefSeq": {
            "hgvs": "NM_000338.3:c.724+4A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370381.3:n.724+4A="
          },
          "RefSeq": {
            "hgvs": "NP_000329.2:n.724+4A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 843,
          "endIntronDirection": "-",
          "endIntronOffset": 503,
          "referenceAllele": "A",
          "start": 843,
          "startIntronDirection": "-",
          "startIntronOffset": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "NM_001184832.2:c.629-504A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171761.1:n.629-504A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 939,
          "endIntronDirection": "+",
          "endIntronOffset": 628,
          "referenceAllele": "A",
          "start": 939,
          "startIntronDirection": "+",
          "startIntronOffset": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "NM_001384136.1:c.724+628A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001371065.1:n.724+628A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722663"
    }
  ],
  "type": "nucleotide"
}