{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3505347",
  "communityStandardTitle": [
    "NM_000112.4(SLC26A2):c.875A>G (p.His292Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1072530[alleleid]",
        "alleleId": 1072530,
        "preferredName": "NM_000112.4(SLC26A2):c.875A>G (p.His292Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1095646",
        "RCV": [
          "RCV001416607",
          "RCV002554063"
        ],
        "variationId": 1095646
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-149360031-A-G",
        "id": "5-149360031-A-G",
        "variant": "5:149360031 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149360031A>G?assembly=hg19",
        "id": "chr5:g.149360031A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149980468A>G?assembly=hg38",
        "id": "chr5:g.149980468A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/761259326",
        "rs": 761259326
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149360031-A-G?dataset=gnomad_r2_1",
        "id": "5-149360031-A-G",
        "variant": "5:149360031 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149980468-A-G?dataset=gnomad_r3",
        "id": "5-149980468-A-G",
        "variant": "5:149980468 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149980468-A-G?dataset=gnomad_r4",
        "id": "5-149980468-A-G",
        "variant": "5:149980468 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 149980468,
          "referenceAllele": "A",
          "start": 149980467
        }
      ],
      "hgvs": [
        "NC_000005.10:g.149980468A>G",
        "CM000667.2:g.149980468A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 149360031,
          "referenceAllele": "A",
          "start": 149360030
        }
      ],
      "hgvs": [
        "NC_000005.9:g.149360031A>G",
        "CM000667.1:g.149360031A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 149340224,
          "referenceAllele": "A",
          "start": 149340223
        }
      ],
      "hgvs": [
        "NC_000005.8:g.149340224A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21586,
          "referenceAllele": "A",
          "start": 21585
        }
      ],
      "hgvs": [
        "NG_007147.2:g.21586A>G",
        "LRG_684:g.21586A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000500"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1122,
          "referenceAllele": "A",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000286298.5:c.875A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286298.4:p.His292Arg",
        "hgvsWellDefined": "ENSP00000286298.4:p.His292Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743841",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286298.5:c.875A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000112.4:c.875A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286298.4:p.His292Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000103.2:p.His292Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1143,
          "referenceAllele": "A",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000286298.4:c.875A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286298.4:p.His292Arg",
        "hgvsWellDefined": "ENSP00000286298.4:p.His292Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 372,
          "endIntronDirection": "+",
          "endIntronOffset": 2117,
          "referenceAllele": "A",
          "start": 372,
          "startIntronDirection": "+",
          "startIntronOffset": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000503336.1:c.372+2117A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426053.1:n.372+2117A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499228551",
      "coordinates": [
        {
          "allele": "G",
          "end": 1143,
          "referenceAllele": "A",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NM_000112.3:c.875A>G",
        "LRG_684t1:c.875A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000103.2:p.His292Arg",
        "hgvsWellDefined": "NP_000103.2:p.His292Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1116,
          "referenceAllele": "A",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "XM_017009191.2:c.875A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864680.1:p.His292Arg",
        "hgvsWellDefined": "XP_016864680.1:p.His292Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499228551",
      "coordinates": [
        {
          "allele": "G",
          "end": 1122,
          "referenceAllele": "A",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NM_000112.4:c.875A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000103.2:p.His292Arg",
        "hgvsWellDefined": "NP_000103.2:p.His292Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674707",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286298.5:c.875A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000112.4:c.875A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286298.4:p.His292Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000103.2:p.His292Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}