{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1590737426",
  "communityStandardTitle": [
    "NM_000112.4(SLC26A2):c.496G= (p.Gly166=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/386833506",
        "rs": 386833506
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 149978148,
          "referenceAllele": "G",
          "start": 149978147
        }
      ],
      "hgvs": [
        "NC_000005.10:g.149978148G=",
        "CM000667.2:g.149978148G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 149357711,
          "referenceAllele": "G",
          "start": 149357710
        }
      ],
      "hgvs": [
        "NC_000005.9:g.149357711G=",
        "CM000667.1:g.149357711G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 149337904,
          "referenceAllele": "G",
          "start": 149337903
        }
      ],
      "hgvs": [
        "NC_000005.8:g.149337904G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 19266,
          "referenceAllele": "G",
          "start": 19265
        }
      ],
      "hgvs": [
        "NG_007147.2:g.19266G=",
        "LRG_684:g.19266G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000500"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 728,
          "referenceAllele": "G",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000690410.1:n.728G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 743,
          "referenceAllele": "G",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000286298.5:c.496G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286298.4:p.Gly166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743841",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286298.5:c.496G="
          },
          "RefSeq": {
            "hgvs": "NM_000112.4:c.496G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286298.4:p.Gly166="
          },
          "RefSeq": {
            "hgvs": "NP_000103.2:p.Gly166="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 764,
          "referenceAllele": "G",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000286298.4:c.496G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286298.4:p.Gly166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 169,
          "referenceAllele": "G",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000503336.1:c.169G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426053.1:p.Gly57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3071044979",
      "coordinates": [
        {
          "allele": "G",
          "end": 764,
          "referenceAllele": "G",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NM_000112.3:c.496G=",
        "LRG_684t1:c.496G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000103.2:p.Gly166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 737,
          "referenceAllele": "G",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "XM_017009191.2:c.496G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864680.1:p.Gly166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3071044979",
      "coordinates": [
        {
          "allele": "G",
          "end": 743,
          "referenceAllele": "G",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NM_000112.4:c.496G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000103.2:p.Gly166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674707",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286298.5:c.496G="
          },
          "RefSeq": {
            "hgvs": "NM_000112.4:c.496G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286298.4:p.Gly166="
          },
          "RefSeq": {
            "hgvs": "NP_000103.2:p.Gly166="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}