{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1139771935",
  "communityStandardTitle": [
    "NM_000112.4(SLC26A2):c.835C= (p.Arg279=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893915",
        "rs": 104893915
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 149980428,
          "referenceAllele": "C",
          "start": 149980427
        }
      ],
      "hgvs": [
        "NC_000005.10:g.149980428C=",
        "CM000667.2:g.149980428C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 149359991,
          "referenceAllele": "C",
          "start": 149359990
        }
      ],
      "hgvs": [
        "NC_000005.9:g.149359991C=",
        "CM000667.1:g.149359991C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 149340184,
          "referenceAllele": "C",
          "start": 149340183
        }
      ],
      "hgvs": [
        "NC_000005.8:g.149340184C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 21546,
          "referenceAllele": "C",
          "start": 21545
        }
      ],
      "hgvs": [
        "NG_007147.2:g.21546C=",
        "LRG_684:g.21546C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000500"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1082,
          "referenceAllele": "C",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000286298.5:c.835C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286298.4:p.Arg279="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743841",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286298.5:c.835C="
          },
          "RefSeq": {
            "hgvs": "NM_000112.4:c.835C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286298.4:p.Arg279="
          },
          "RefSeq": {
            "hgvs": "NP_000103.2:p.Arg279="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000286298.4:c.835C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286298.4:p.Arg279="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253352"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 372,
          "endIntronDirection": "+",
          "endIntronOffset": 2077,
          "referenceAllele": "C",
          "start": 372,
          "startIntronDirection": "+",
          "startIntronOffset": 2076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000503336.1:c.372+2077C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426053.1:n.372+2077C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825075557",
      "coordinates": [
        {
          "allele": "C",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NM_000112.3:c.835C=",
        "LRG_684t1:c.835C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000103.2:p.Arg279="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006175"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "XM_017009191.2:c.835C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864680.1:p.Arg279="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825075557",
      "coordinates": [
        {
          "allele": "C",
          "end": 1082,
          "referenceAllele": "C",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NM_000112.4:c.835C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000103.2:p.Arg279="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674707",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286298.5:c.835C="
          },
          "RefSeq": {
            "hgvs": "NM_000112.4:c.835C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286298.4:p.Arg279="
          },
          "RefSeq": {
            "hgvs": "NP_000103.2:p.Arg279="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}