{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA247798",
  "communityStandardTitle": [
    "NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196061[alleleid]",
        "alleleId": 196061,
        "preferredName": "NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198901",
        "RCV": [
          "RCV000180362",
          "RCV000764411",
          "RCV001137117",
          "RCV002345627",
          "RCV003937636"
        ],
        "variationId": 198901
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-44099435-A-T",
        "id": "2-44099435-A-T",
        "variant": "2:44099435 A / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.44099435A>T?assembly=hg19",
        "id": "chr2:g.44099435A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.43872296A>T?assembly=hg38",
        "id": "chr2:g.43872296A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/144200355",
        "rs": 144200355
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-44099435-A-T?dataset=gnomad_r2_1",
        "id": "2-44099435-A-T",
        "variant": "2:44099435 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-43872296-A-T?dataset=gnomad_r3",
        "id": "2-43872296-A-T",
        "variant": "2:43872296 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-43872296-A-T?dataset=gnomad_r4",
        "id": "2-43872296-A-T",
        "variant": "2:43872296 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 43872296,
          "referenceAllele": "A",
          "start": 43872295
        }
      ],
      "hgvs": [
        "NC_000002.12:g.43872296A>T",
        "CM000664.2:g.43872296A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 44099435,
          "referenceAllele": "A",
          "start": 44099434
        }
      ],
      "hgvs": [
        "NC_000002.11:g.44099435A>T",
        "CM000664.1:g.44099435A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 43952939,
          "referenceAllele": "A",
          "start": 43952938
        }
      ],
      "hgvs": [
        "NC_000002.10:g.43952939A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38333,
          "referenceAllele": "A",
          "start": 38332
        }
      ],
      "hgvs": [
        "NG_008884.1:g.38333A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 45355,
          "referenceAllele": "A",
          "start": 45354
        }
      ],
      "hgvs": [
        "NG_008884.2:g.45355A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706090"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1284,
          "referenceAllele": "A",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000272286.4:c.1201A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272286.2:p.Thr401Ser",
        "hgvsWellDefined": "ENSP00000272286.2:p.Thr401Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743232",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272286.4:c.1201A>T"
          },
          "RefSeq": {
            "hgvs": "NM_022437.3:c.1201A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272286.2:p.Thr401Ser"
          },
          "RefSeq": {
            "hgvs": "NP_071882.1:p.Thr401Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1858,
          "referenceAllele": "A",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000644611.1:c.1213A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495423.1:p.Thr405Ser",
        "hgvsWellDefined": "ENSP00000495423.1:p.Thr405Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1291,
          "referenceAllele": "A",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000272286.2:c.1201A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272286.2:p.Thr401Ser",
        "hgvsWellDefined": "ENSP00000272286.2:p.Thr401Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA247799",
      "coordinates": [
        {
          "allele": "T",
          "end": 1291,
          "referenceAllele": "A",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_022437.2:c.1201A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071882.1:p.Thr401Ser",
        "hgvsWellDefined": "NP_071882.1:p.Thr401Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1287,
          "referenceAllele": "A",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_005264483.2:c.1198A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264540.1:p.Thr400Ser",
        "hgvsWellDefined": "XP_005264540.1:p.Thr400Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1703,
          "referenceAllele": "A",
          "start": 1702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533029.1:c.1213A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531331.1:p.Thr405Ser",
        "hgvsWellDefined": "XP_011531331.1:p.Thr405Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1701,
          "referenceAllele": "A",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533030.1:c.1210A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531332.1:p.Thr404Ser",
        "hgvsWellDefined": "XP_011531332.1:p.Thr404Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100056"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2981,
          "referenceAllele": "A",
          "start": 2980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533031.1:c.985A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531333.1:p.Thr329Ser",
        "hgvsWellDefined": "XP_011531333.1:p.Thr329Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1703,
          "referenceAllele": "A",
          "start": 1702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_939707.1:n.1703A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828052722",
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "A",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_001357321.1:c.1198A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001344250.1:p.Thr400Ser",
        "hgvsWellDefined": "NP_001344250.1:p.Thr400Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1858,
          "referenceAllele": "A",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533029.2:c.1213A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531331.1:p.Thr405Ser",
        "hgvsWellDefined": "XP_011531331.1:p.Thr405Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1700,
          "referenceAllele": "A",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533030.2:c.1210A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531332.1:p.Thr404Ser",
        "hgvsWellDefined": "XP_011531332.1:p.Thr404Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1717,
          "referenceAllele": "A",
          "start": 1716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_001738891.1:n.1717A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1717,
          "referenceAllele": "A",
          "start": 1716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_939707.2:n.1717A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612370"
    },
    {
      "@id": "http://reg.genome.network/allele/PA247799",
      "coordinates": [
        {
          "allele": "T",
          "end": 1284,
          "referenceAllele": "A",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_022437.3:c.1201A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071882.1:p.Thr401Ser",
        "hgvsWellDefined": "NP_071882.1:p.Thr401Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670434",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272286.4:c.1201A>T"
          },
          "RefSeq": {
            "hgvs": "NM_022437.3:c.1201A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272286.2:p.Thr401Ser"
          },
          "RefSeq": {
            "hgvs": "NP_071882.1:p.Thr401Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828052722",
      "coordinates": [
        {
          "allele": "T",
          "end": 1281,
          "referenceAllele": "A",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_001357321.2:c.1198A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001344250.1:p.Thr400Ser",
        "hgvsWellDefined": "NP_001344250.1:p.Thr400Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690462"
    }
  ],
  "type": "nucleotide"
}