{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1730721563",
  "communityStandardTitle": [
    "NM_198999.3(SLC26A5):c.390A= (p.Arg130=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/431905517",
        "rs": 431905517
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 103413015,
          "referenceAllele": "T",
          "start": 103413014
        }
      ],
      "hgvs": [
        "NC_000007.14:g.103413015T=",
        "CM000669.2:g.103413015T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 103053462,
          "referenceAllele": "T",
          "start": 103053461
        }
      ],
      "hgvs": [
        "NC_000007.13:g.103053462T=",
        "CM000669.1:g.103053462T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 102840698,
          "referenceAllele": "T",
          "start": 102840697
        }
      ],
      "hgvs": [
        "NC_000007.12:g.102840698T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 38163,
          "referenceAllele": "A",
          "start": 38162
        }
      ],
      "hgvs": [
        "NG_023055.1:g.38163A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003699"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 682,
          "referenceAllele": "A",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "ENST00000306312.8:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304783.3:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745276",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000306312.8:c.390A="
          },
          "RefSeq": {
            "hgvs": "NM_198999.3:c.390A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304783.3:p.Arg130="
          },
          "RefSeq": {
            "hgvs": "NP_945350.1:p.Arg130="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "ENST00000306312.7:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304783.3:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 626,
          "referenceAllele": "A",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "ENST00000339444.10:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342396.6:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "ENST00000354356.8:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346325.5:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 626,
          "referenceAllele": "A",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "ENST00000356767.8:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349210.4:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 398,
          "referenceAllele": "A",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "ENST00000393723.2:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377324.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275779"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 398,
          "referenceAllele": "A",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "ENST00000393727.5:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377328.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "endIntronDirection": "-",
          "endIntronOffset": 1428,
          "referenceAllele": "A",
          "start": 457,
          "startIntronDirection": "-",
          "startIntronOffset": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "ENST00000393729.5:c.293-1429A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377330.1:n.293-1429A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 557,
          "referenceAllele": "A",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "ENST00000393730.5:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377331.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 626,
          "referenceAllele": "A",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "ENST00000393735.6:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377336.2:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275788"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 557,
          "referenceAllele": "A",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "ENST00000423416.5:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389018.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "ENST00000432958.6:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389733.2:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292325"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 557,
          "referenceAllele": "A",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "ENST00000445809.5:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396833.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 557,
          "referenceAllele": "A",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "ENST00000454864.5:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416502.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "endIntronDirection": "-",
          "endIntronOffset": 1428,
          "referenceAllele": "A",
          "start": 457,
          "startIntronDirection": "-",
          "startIntronOffset": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "ENST00000456463.5:c.293-1429A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395568.1:n.293-1429A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303497"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 554,
          "endIntronDirection": "-",
          "endIntronOffset": 1428,
          "referenceAllele": "A",
          "start": 554,
          "startIntronDirection": "-",
          "startIntronOffset": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "ENST00000487407.1:n.555-1429A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "NM_001167962.1:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001161434.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015034"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073559925",
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "NM_198999.2:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "NP_945350.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044807"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "NM_206883.2:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "NP_996766.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045310"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "NM_206884.2:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "NP_996767.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "NM_206885.2:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "NP_996768.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 572,
          "referenceAllele": "A",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "NR_120441.1:n.572A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 572,
          "referenceAllele": "A",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "NR_120442.1:n.572A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 572,
          "referenceAllele": "A",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "NR_120443.1:n.572A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1438,
          "referenceAllele": "A",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "XM_011516170.1:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514472.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "NM_001321787.1:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001308716.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "NR_135801.1:n.652A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "NR_135802.1:n.652A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1442,
          "referenceAllele": "A",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "XM_011516170.3:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514472.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544059"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "XR_001744725.2:n.652A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1442,
          "referenceAllele": "A",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "XR_001744726.1:n.1442A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "XR_001744727.2:n.652A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "A",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "XR_002956437.1:n.652A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 682,
          "referenceAllele": "A",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "NM_001321787.2:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001308716.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685479"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073559925",
      "coordinates": [
        {
          "allele": "A",
          "end": 682,
          "referenceAllele": "A",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "NM_198999.3:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "NP_945350.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701439",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000306312.8:c.390A="
          },
          "RefSeq": {
            "hgvs": "NM_198999.3:c.390A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304783.3:p.Arg130="
          },
          "RefSeq": {
            "hgvs": "NP_945350.1:p.Arg130="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 682,
          "referenceAllele": "A",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "NM_206883.3:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "NP_996766.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 682,
          "referenceAllele": "A",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "NM_206884.3:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "NP_996767.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 682,
          "referenceAllele": "A",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "NM_206885.3:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "NP_996768.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 682,
          "referenceAllele": "A",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "NR_135802.2:n.682A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 682,
          "referenceAllele": "A",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "NM_001167962.2:c.390A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001161434.1:p.Arg130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 682,
          "referenceAllele": "A",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009359",
      "geneNCBI_id": 375611,
      "geneSymbol": "SLC26A5",
      "hgvs": [
        "NR_135801.2:n.682A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730949"
    }
  ],
  "type": "nucleotide"
}