{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1636380",
  "communityStandardTitle": [
    "NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=286313[alleleid]",
        "alleleId": 286313,
        "preferredName": "NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/336042",
        "RCV": [
          "RCV000290288",
          "RCV001209660",
          "RCV002323543",
          "RCV003480606",
          "RCV003922453",
          "RCV003137963"
        ],
        "variationId": 336042
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-44051213-G-A",
        "id": "2-44051213-G-A",
        "variant": "2:44051213 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.44051213G>A?assembly=hg19",
        "id": "chr2:g.44051213G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.43824074G>A?assembly=hg38",
        "id": "chr2:g.43824074G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/149418765",
        "rs": 149418765
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-44051213-G-A?dataset=gnomad_r2_1",
        "id": "2-44051213-G-A",
        "variant": "2:44051213 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-43824074-G-A?dataset=gnomad_r3",
        "id": "2-43824074-G-A",
        "variant": "2:43824074 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-43824074-G-A?dataset=gnomad_r4",
        "id": "2-43824074-G-A",
        "variant": "2:43824074 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 43824074,
          "referenceAllele": "G",
          "start": 43824073
        }
      ],
      "hgvs": [
        "NC_000002.12:g.43824074G>A",
        "CM000664.2:g.43824074G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 44051213,
          "referenceAllele": "G",
          "start": 44051212
        }
      ],
      "hgvs": [
        "NC_000002.11:g.44051213G>A",
        "CM000664.1:g.44051213G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 43904717,
          "referenceAllele": "G",
          "start": 43904716
        }
      ],
      "hgvs": [
        "NC_000002.10:g.43904717G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19746,
          "referenceAllele": "C",
          "start": 19745
        }
      ],
      "hgvs": [
        "NG_008883.1:g.19746C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001278"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 55036,
          "referenceAllele": "G",
          "start": 55035
        }
      ],
      "hgvs": [
        "NG_053008.1:g.55036G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617315"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1323,
          "referenceAllele": "C",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000405322.8:c.1163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384513.2:p.Thr388Met",
        "hgvsWellDefined": "ENSP00000384513.2:p.Thr388Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754122",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405322.8:c.1163C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022436.3:c.1163C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384513.2:p.Thr388Met"
          },
          "RefSeq": {
            "hgvs": "NP_071881.1:p.Thr388Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000644754.1:n.1547C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1303,
          "referenceAllele": "C",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000260645.5:c.1163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260645.1:p.Thr388Met",
        "hgvsWellDefined": "ENSP00000260645.1:p.Thr388Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000405322.5:c.650C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384513.1:p.Thr217Met",
        "hgvsWellDefined": "ENSP00000384513.1:p.Thr217Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1446,
          "referenceAllele": "C",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000409962.1:c.*37C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386501.1:n.*37C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282000"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1684,
          "referenceAllele": "C",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000486512.5:c.*432C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430935.1:n.*432C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS325308"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645440194",
      "coordinates": [
        {
          "allele": "T",
          "end": 1303,
          "referenceAllele": "C",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "NM_022436.2:c.1163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071881.1:p.Thr388Met",
        "hgvsWellDefined": "NP_071881.1:p.Thr388Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1223,
          "endIntronDirection": "-",
          "endIntronOffset": 3311,
          "referenceAllele": "G",
          "start": 1223,
          "startIntronDirection": "-",
          "startIntronOffset": 3312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "XM_005264364.3:c.*16-3312G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264421.1:n.*16-3312G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1220,
          "endIntronDirection": "-",
          "endIntronOffset": 3311,
          "referenceAllele": "G",
          "start": 1220,
          "startIntronDirection": "-",
          "startIntronOffset": 3312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "XM_005264365.3:c.*16-3312G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264422.1:n.*16-3312G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1303,
          "referenceAllele": "C",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_005264480.2:c.1163C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264537.1:p.Thr388Met",
        "hgvsWellDefined": "XP_005264537.1:p.Thr388Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1301,
          "referenceAllele": "C",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_006712073.2:c.1163C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712136.1:p.Thr388Met",
        "hgvsWellDefined": "XP_006712136.1:p.Thr388Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1299,
          "referenceAllele": "C",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533024.1:c.1163C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531326.1:p.Thr388Met",
        "hgvsWellDefined": "XP_011531326.1:p.Thr388Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1849,
          "referenceAllele": "C",
          "start": 1848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533025.1:c.920C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531327.1:p.Thr307Met",
        "hgvsWellDefined": "XP_011531327.1:p.Thr307Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1030,
          "referenceAllele": "C",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533026.1:c.893C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531328.1:p.Thr298Met",
        "hgvsWellDefined": "XP_011531328.1:p.Thr298Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1694,
          "referenceAllele": "C",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533027.1:c.650C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531329.1:p.Thr217Met",
        "hgvsWellDefined": "XP_011531329.1:p.Thr217Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 478,
          "referenceAllele": "C",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533028.1:c.326C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531330.1:p.Thr109Met",
        "hgvsWellDefined": "XP_011531330.1:p.Thr109Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100054"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1237,
          "endIntronDirection": "-",
          "endIntronOffset": 3311,
          "referenceAllele": "G",
          "start": 1237,
          "startIntronDirection": "-",
          "startIntronOffset": 3312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_001348912.1:c.*16-3312G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335841.1:n.*16-3312G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1240,
          "endIntronDirection": "-",
          "endIntronOffset": 3311,
          "referenceAllele": "G",
          "start": 1240,
          "startIntronDirection": "-",
          "startIntronOffset": 3312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_001348913.1:c.*16-3312G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335842.1:n.*16-3312G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518359"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_005264480.4:c.1163C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264537.1:p.Thr388Met",
        "hgvsWellDefined": "XP_005264537.1:p.Thr388Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_006712073.3:c.1163C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712136.1:p.Thr388Met",
        "hgvsWellDefined": "XP_006712136.1:p.Thr388Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533024.2:c.1163C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531326.1:p.Thr388Met",
        "hgvsWellDefined": "XP_011531326.1:p.Thr388Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1824,
          "referenceAllele": "C",
          "start": 1823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533025.3:c.920C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531327.1:p.Thr307Met",
        "hgvsWellDefined": "XP_011531327.1:p.Thr307Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551079"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1054,
          "referenceAllele": "C",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533026.2:c.893C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531328.1:p.Thr298Met",
        "hgvsWellDefined": "XP_011531328.1:p.Thr298Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1669,
          "referenceAllele": "C",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533027.3:c.650C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531329.1:p.Thr217Met",
        "hgvsWellDefined": "XP_011531329.1:p.Thr217Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 478,
          "referenceAllele": "C",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533028.2:c.326C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531330.1:p.Thr109Met",
        "hgvsWellDefined": "XP_011531330.1:p.Thr109Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551082"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645440194",
      "coordinates": [
        {
          "allele": "T",
          "end": 1323,
          "referenceAllele": "C",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "NM_022436.3:c.1163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071881.1:p.Thr388Met",
        "hgvsWellDefined": "NP_071881.1:p.Thr388Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405322.8:c.1163C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022436.3:c.1163C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384513.2:p.Thr388Met"
          },
          "RefSeq": {
            "hgvs": "NP_071881.1:p.Thr388Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1237,
          "endIntronDirection": "-",
          "endIntronOffset": 3311,
          "referenceAllele": "G",
          "start": 1237,
          "startIntronDirection": "-",
          "startIntronOffset": 3312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_001348912.2:c.*16-3312G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335841.1:n.*16-3312G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1240,
          "endIntronDirection": "-",
          "endIntronOffset": 3311,
          "referenceAllele": "G",
          "start": 1240,
          "startIntronDirection": "-",
          "startIntronOffset": 3312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_001348913.2:c.*16-3312G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335842.1:n.*16-3312G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719199"
    }
  ],
  "type": "nucleotide"
}