{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA250393",
  "communityStandardTitle": [
    "NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205781[alleleid]",
        "alleleId": 205781,
        "preferredName": "NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/209191",
        "RCV": [
          "RCV000191129",
          "RCV000681951"
        ],
        "variationId": 209191
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.56904611T>C?assembly=hg19",
        "id": "chr16:g.56904611T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.56870699T>C?assembly=hg38",
        "id": "chr16:g.56870699T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/568513106",
        "rs": 568513106
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-56904611-T-C?dataset=gnomad_r2_1",
        "id": "16-56904611-T-C",
        "variant": "16:56904611 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-56870699-T-C?dataset=gnomad_r3",
        "id": "16-56870699-T-C",
        "variant": "16:56870699 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-56870699-T-C?dataset=gnomad_r4",
        "id": "16-56870699-T-C",
        "variant": "16:56870699 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 56870699,
          "referenceAllele": "T",
          "start": 56870698
        }
      ],
      "hgvs": [
        "NC_000016.10:g.56870699T>C",
        "CM000678.2:g.56870699T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 56904611,
          "referenceAllele": "T",
          "start": 56904610
        }
      ],
      "hgvs": [
        "NC_000016.9:g.56904611T>C",
        "CM000678.1:g.56904611T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 55462112,
          "referenceAllele": "T",
          "start": 55462111
        }
      ],
      "hgvs": [
        "NC_000016.8:g.55462112T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10493,
          "referenceAllele": "T",
          "start": 10492
        }
      ],
      "hgvs": [
        "NG_009386.1:g.10493T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001588"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10493,
          "referenceAllele": "T",
          "start": 10492
        }
      ],
      "hgvs": [
        "NG_009386.2:g.10493T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706095"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 844,
          "referenceAllele": "T",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "ENST00000563236.6:c.815T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456149.2:p.Leu272Pro",
        "hgvsWellDefined": "ENSP00000456149.2:p.Leu272Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760388",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000563236.6:c.815T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001126108.2:c.815T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000456149.2:p.Leu272Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001119580.2:p.Leu272Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 837,
          "referenceAllele": "T",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "ENST00000262502.5:c.812T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262502.5:p.Leu271Pro",
        "hgvsWellDefined": "ENSP00000262502.5:p.Leu271Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251040"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 844,
          "referenceAllele": "T",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "ENST00000438926.6:c.815T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402152.2:p.Leu272Pro",
        "hgvsWellDefined": "ENSP00000402152.2:p.Leu272Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 840,
          "referenceAllele": "T",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "ENST00000563236.5:c.815T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456149.1:p.Leu272Pro",
        "hgvsWellDefined": "ENSP00000456149.1:p.Leu272Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377286"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 841,
          "referenceAllele": "T",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "ENST00000566786.5:c.812T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457552.1:p.Leu271Pro",
        "hgvsWellDefined": "ENSP00000457552.1:p.Leu271Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA250394",
      "coordinates": [
        {
          "allele": "C",
          "end": 844,
          "referenceAllele": "T",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_000339.2:c.815T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000330.2:p.Leu272Pro",
        "hgvsWellDefined": "NP_000330.2:p.Leu272Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 841,
          "referenceAllele": "T",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_001126107.1:c.812T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119579.1:p.Leu271Pro",
        "hgvsWellDefined": "NP_001119579.1:p.Leu271Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011487"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 844,
          "referenceAllele": "T",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_001126108.1:c.815T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119580.1:p.Leu272Pro",
        "hgvsWellDefined": "NP_001119580.1:p.Leu272Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011488"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 841,
          "referenceAllele": "T",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "XM_005256119.1:c.812T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256176.1:p.Leu271Pro",
        "hgvsWellDefined": "XP_005256176.1:p.Leu271Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061172"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 841,
          "referenceAllele": "T",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "XM_005256119.2:c.812T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256176.1:p.Leu271Pro",
        "hgvsWellDefined": "XP_005256176.1:p.Leu271Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534392"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825143053",
      "coordinates": [
        {
          "allele": "C",
          "end": 844,
          "referenceAllele": "T",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_000339.3:c.815T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000330.3:p.Leu272Pro",
        "hgvsWellDefined": "NP_000330.3:p.Leu272Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825595802",
      "coordinates": [
        {
          "allele": "C",
          "end": 841,
          "referenceAllele": "T",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_001126107.2:c.812T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119579.2:p.Leu271Pro",
        "hgvsWellDefined": "NP_001119579.2:p.Leu271Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915977887",
      "coordinates": [
        {
          "allele": "C",
          "end": 844,
          "referenceAllele": "T",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NM_001126108.2:c.815T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119580.2:p.Leu272Pro",
        "hgvsWellDefined": "NP_001119580.2:p.Leu272Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676822",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000563236.6:c.815T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001126108.2:c.815T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000456149.2:p.Leu272Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001119580.2:p.Leu272Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}