{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8070077",
  "communityStandardTitle": [
    "NM_001126108.2(SLC12A3):c.2856+1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360256[alleleid]",
        "alleleId": 360256,
        "preferredName": "NM_001126108.2(SLC12A3):c.2856+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372504",
        "RCV": [
          "RCV000412851",
          "RCV001271445",
          "RCV001328169"
        ],
        "variationId": 372504
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-56936421-G-T",
        "id": "16-56936421-G-T",
        "variant": "16:56936421 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.56936421G>T?assembly=hg19",
        "id": "chr16:g.56936421G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.56902509G>T?assembly=hg38",
        "id": "chr16:g.56902509G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199974259",
        "rs": 199974259
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-56936421-G-T?dataset=gnomad_r2_1",
        "id": "16-56936421-G-T",
        "variant": "16:56936421 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-56902509-G-T?dataset=gnomad_r3",
        "id": "16-56902509-G-T",
        "variant": "16:56902509 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-56902509-G-T?dataset=gnomad_r4",
        "id": "16-56902509-G-T",
        "variant": "16:56902509 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 56902509,
          "referenceAllele": "G",
          "start": 56902508
        }
      ],
      "hgvs": [
        "NC_000016.10:g.56902509G>T",
        "CM000678.2:g.56902509G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 56936421,
          "referenceAllele": "G",
          "start": 56936420
        }
      ],
      "hgvs": [
        "NC_000016.9:g.56936421G>T",
        "CM000678.1:g.56936421G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 55493922,
          "referenceAllele": "G",
          "start": 55493921
        }
      ],
      "hgvs": [
        "NC_000016.8:g.55493922G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42303,
          "referenceAllele": "G",
          "start": 42302
        }
      ],
      "hgvs": [
        "NG_009386.1:g.42303G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001588"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42303,
          "referenceAllele": "G",
          "start": 42302
        }
      ],
      "hgvs": [
        "NG_009386.2:g.42303G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706095"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2885,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2885,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "ENST00000563236.6:c.2856+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456149.2:n.2856+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760388",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000563236.6:c.2856+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001126108.2:c.2856+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000456149.2:n.2856+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001119580.2:n.2856+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2878,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2878,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "ENST00000262502.5:c.2853+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262502.5:n.2853+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251040"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2912,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2912,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "ENST00000438926.6:c.2883+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402152.2:n.2883+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2881,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2881,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "ENST00000563236.5:c.2856+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456149.1:n.2856+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377286"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2909,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2909,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "ENST00000566786.5:c.2880+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457552.1:n.2880+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 287,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 287,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "ENST00000569002.1:n.287+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2912,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2912,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_000339.2:c.2883+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000330.2:n.2883+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2909,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2909,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_001126107.1:c.2880+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119579.1:n.2880+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2885,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2885,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_001126108.1:c.2856+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119580.1:n.2856+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011488"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2882,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2882,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "XM_005256119.1:c.2853+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256176.1:n.2853+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2882,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2882,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "XM_005256119.2:c.2853+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256176.1:n.2853+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2912,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2912,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_000339.3:c.2883+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000330.3:n.2883+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674797"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2909,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2909,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_001126107.2:c.2880+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119579.2:n.2880+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2885,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2885,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_001126108.2:c.2856+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119580.2:n.2856+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676822",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000563236.6:c.2856+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001126108.2:c.2856+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000456149.2:n.2856+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001119580.2:n.2856+1G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}