{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA253376",
  "communityStandardTitle": [
    "NM_022436.3(ABCG5):c.1166G>A (p.Arg389His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20019[alleleid]",
        "alleleId": 20019,
        "preferredName": "NM_022436.3(ABCG5):c.1166G>A (p.Arg389His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4980",
        "RCV": [
          "RCV000005268",
          "RCV001232197",
          "RCV002326665",
          "RCV002223753"
        ],
        "variationId": 4980
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-44051210-C-T",
        "id": "2-44051210-C-T",
        "variant": "2:44051210 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.44051210C>T?assembly=hg19",
        "id": "chr2:g.44051210C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.43824071C>T?assembly=hg38",
        "id": "chr2:g.43824071C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/119480069",
        "rs": 119480069
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-44051210-C-T?dataset=gnomad_r2_1",
        "id": "2-44051210-C-T",
        "variant": "2:44051210 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-43824071-C-T?dataset=gnomad_r3",
        "id": "2-43824071-C-T",
        "variant": "2:43824071 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-43824071-C-T?dataset=gnomad_r4",
        "id": "2-43824071-C-T",
        "variant": "2:43824071 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 43824071,
          "referenceAllele": "C",
          "start": 43824070
        }
      ],
      "hgvs": [
        "NC_000002.12:g.43824071C>T",
        "CM000664.2:g.43824071C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 44051210,
          "referenceAllele": "C",
          "start": 44051209
        }
      ],
      "hgvs": [
        "NC_000002.11:g.44051210C>T",
        "CM000664.1:g.44051210C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 43904714,
          "referenceAllele": "C",
          "start": 43904713
        }
      ],
      "hgvs": [
        "NC_000002.10:g.43904714C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19749,
          "referenceAllele": "G",
          "start": 19748
        }
      ],
      "hgvs": [
        "NG_008883.1:g.19749G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001278"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 55033,
          "referenceAllele": "C",
          "start": 55032
        }
      ],
      "hgvs": [
        "NG_053008.1:g.55033C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617315"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1326,
          "referenceAllele": "G",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000405322.8:c.1166G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384513.2:p.Arg389His",
        "hgvsWellDefined": "ENSP00000384513.2:p.Arg389His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754122",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405322.8:c.1166G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022436.3:c.1166G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384513.2:p.Arg389His"
          },
          "RefSeq": {
            "hgvs": "NP_071881.1:p.Arg389His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1550,
          "referenceAllele": "G",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000644754.1:n.1550G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767979"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "referenceAllele": "G",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000260645.5:c.1166G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260645.1:p.Arg389His",
        "hgvsWellDefined": "ENSP00000260645.1:p.Arg389His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1550,
          "referenceAllele": "G",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000405322.5:c.653G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384513.1:p.Arg218His",
        "hgvsWellDefined": "ENSP00000384513.1:p.Arg218His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1449,
          "referenceAllele": "G",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000409962.1:c.*40G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386501.1:n.*40G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1687,
          "referenceAllele": "G",
          "start": 1686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "ENST00000486512.5:c.*435G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430935.1:n.*435G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS325308"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110928",
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "referenceAllele": "G",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "NM_022436.2:c.1166G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071881.1:p.Arg389His",
        "hgvsWellDefined": "NP_071881.1:p.Arg389His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1223,
          "endIntronDirection": "-",
          "endIntronOffset": 3314,
          "referenceAllele": "C",
          "start": 1223,
          "startIntronDirection": "-",
          "startIntronOffset": 3315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "XM_005264364.3:c.*16-3315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264421.1:n.*16-3315C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1220,
          "endIntronDirection": "-",
          "endIntronOffset": 3314,
          "referenceAllele": "C",
          "start": 1220,
          "startIntronDirection": "-",
          "startIntronOffset": 3315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "XM_005264365.3:c.*16-3315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264422.1:n.*16-3315C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "referenceAllele": "G",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_005264480.2:c.1166G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264537.1:p.Arg389His",
        "hgvsWellDefined": "XP_005264537.1:p.Arg389His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1304,
          "referenceAllele": "G",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_006712073.2:c.1166G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712136.1:p.Arg389His",
        "hgvsWellDefined": "XP_006712136.1:p.Arg389His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069455"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1302,
          "referenceAllele": "G",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533024.1:c.1166G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531326.1:p.Arg389His",
        "hgvsWellDefined": "XP_011531326.1:p.Arg389His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1852,
          "referenceAllele": "G",
          "start": 1851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533025.1:c.923G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531327.1:p.Arg308His",
        "hgvsWellDefined": "XP_011531327.1:p.Arg308His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1033,
          "referenceAllele": "G",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533026.1:c.896G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531328.1:p.Arg299His",
        "hgvsWellDefined": "XP_011531328.1:p.Arg299His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1697,
          "referenceAllele": "G",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533027.1:c.653G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531329.1:p.Arg218His",
        "hgvsWellDefined": "XP_011531329.1:p.Arg218His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 481,
          "referenceAllele": "G",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533028.1:c.329G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531330.1:p.Arg110His",
        "hgvsWellDefined": "XP_011531330.1:p.Arg110His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1237,
          "endIntronDirection": "-",
          "endIntronOffset": 3314,
          "referenceAllele": "C",
          "start": 1237,
          "startIntronDirection": "-",
          "startIntronOffset": 3315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_001348912.1:c.*16-3315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335841.1:n.*16-3315C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1240,
          "endIntronDirection": "-",
          "endIntronOffset": 3314,
          "referenceAllele": "C",
          "start": 1240,
          "startIntronDirection": "-",
          "startIntronOffset": 3315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_001348913.1:c.*16-3315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335842.1:n.*16-3315C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518359"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1327,
          "referenceAllele": "G",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_005264480.4:c.1166G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264537.1:p.Arg389His",
        "hgvsWellDefined": "XP_005264537.1:p.Arg389His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535887"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1327,
          "referenceAllele": "G",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_006712073.3:c.1166G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712136.1:p.Arg389His",
        "hgvsWellDefined": "XP_006712136.1:p.Arg389His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538166"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1327,
          "referenceAllele": "G",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533024.2:c.1166G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531326.1:p.Arg389His",
        "hgvsWellDefined": "XP_011531326.1:p.Arg389His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551078"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1827,
          "referenceAllele": "G",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533025.3:c.923G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531327.1:p.Arg308His",
        "hgvsWellDefined": "XP_011531327.1:p.Arg308His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1057,
          "referenceAllele": "G",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533026.2:c.896G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531328.1:p.Arg299His",
        "hgvsWellDefined": "XP_011531328.1:p.Arg299His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1672,
          "referenceAllele": "G",
          "start": 1671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533027.3:c.653G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531329.1:p.Arg218His",
        "hgvsWellDefined": "XP_011531329.1:p.Arg218His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 481,
          "referenceAllele": "G",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "XM_011533028.2:c.329G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531330.1:p.Arg110His",
        "hgvsWellDefined": "XP_011531330.1:p.Arg110His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551082"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110928",
      "coordinates": [
        {
          "allele": "A",
          "end": 1326,
          "referenceAllele": "G",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "NM_022436.3:c.1166G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071881.1:p.Arg389His",
        "hgvsWellDefined": "NP_071881.1:p.Arg389His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405322.8:c.1166G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022436.3:c.1166G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384513.2:p.Arg389His"
          },
          "RefSeq": {
            "hgvs": "NP_071881.1:p.Arg389His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1237,
          "endIntronDirection": "-",
          "endIntronOffset": 3314,
          "referenceAllele": "C",
          "start": 1237,
          "startIntronDirection": "-",
          "startIntronOffset": 3315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_001348912.2:c.*16-3315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335841.1:n.*16-3315C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1240,
          "endIntronDirection": "-",
          "endIntronOffset": 3314,
          "referenceAllele": "C",
          "start": 1240,
          "startIntronDirection": "-",
          "startIntronOffset": 3315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_001348913.2:c.*16-3315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335842.1:n.*16-3315C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719199"
    }
  ],
  "type": "nucleotide"
}