{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10605968",
  "communityStandardTitle": [
    "NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=272337[alleleid]",
        "alleleId": 272337,
        "preferredName": "NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/288100",
        "RCV": [
          "RCV000275712",
          "RCV001828248",
          "RCV003463770"
        ],
        "variationId": 288100
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.169826656C>T?assembly=hg19",
        "id": "chr2:g.169826656C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.168970146C>T?assembly=hg38",
        "id": "chr2:g.168970146C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886043807",
        "rs": 886043807
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-169826656-C-T?dataset=gnomad_r2_1",
        "id": "2-169826656-C-T",
        "variant": "2:169826656 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-168970146-C-T?dataset=gnomad_r3",
        "id": "2-168970146-C-T",
        "variant": "2:168970146 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-168970146-C-T?dataset=gnomad_r4",
        "id": "2-168970146-C-T",
        "variant": "2:168970146 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 168970146,
          "referenceAllele": "C",
          "start": 168970145
        }
      ],
      "hgvs": [
        "NC_000002.12:g.168970146C>T",
        "CM000664.2:g.168970146C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 169826656,
          "referenceAllele": "C",
          "start": 169826655
        }
      ],
      "hgvs": [
        "NC_000002.11:g.169826656C>T",
        "CM000664.1:g.169826656C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 169534902,
          "referenceAllele": "C",
          "start": 169534901
        }
      ],
      "hgvs": [
        "NC_000002.10:g.169534902C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 66178,
          "referenceAllele": "G",
          "start": 66177
        }
      ],
      "hgvs": [
        "NG_007374.1:g.66178G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 66251,
          "referenceAllele": "G",
          "start": 66250
        }
      ],
      "hgvs": [
        "NG_007374.2:g.66251G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616073"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25,
          "referenceAllele": "G",
          "start": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000649448.1:c.25G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497165.1:p.Ala9Thr",
        "hgvsWellDefined": "ENSP00000497165.1:p.Ala9Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1835,
          "referenceAllele": "G",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000650372.1:c.1708G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497931.1:p.Ala570Thr",
        "hgvsWellDefined": "ENSP00000497931.1:p.Ala570Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771082",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.1708G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.1708G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Ala570Thr"
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Ala570Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1833,
          "referenceAllele": "G",
          "start": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000263817.6:c.1708G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263817.6:p.Ala570Thr",
        "hgvsWellDefined": "ENSP00000263817.6:p.Ala570Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 397,
          "referenceAllele": "G",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000439188.1:c.397G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416058.1:n.397G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 446,
          "referenceAllele": "G",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000478354.1:n.446G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111922",
      "coordinates": [
        {
          "allele": "A",
          "end": 1834,
          "referenceAllele": "G",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.2:c.1708G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Ala570Thr",
        "hgvsWellDefined": "NP_003733.2:p.Ala570Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1885,
          "referenceAllele": "G",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.2:c.1750G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Ala584Thr",
        "hgvsWellDefined": "XP_006712880.1:p.Ala584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1945,
          "referenceAllele": "G",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.1:c.1810G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Ala604Thr",
        "hgvsWellDefined": "XP_011510379.1:p.Ala604Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079335"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1945,
          "referenceAllele": "G",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.1:c.1810G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Ala604Thr",
        "hgvsWellDefined": "XP_011510380.1:p.Ala604Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1867,
          "referenceAllele": "G",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512079.1:c.1810G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510381.1:p.Ala604Thr",
        "hgvsWellDefined": "XP_011510381.1:p.Ala604Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1949,
          "referenceAllele": "G",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512080.1:c.1810G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510382.1:p.Ala604Thr",
        "hgvsWellDefined": "XP_011510382.1:p.Ala604Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079338"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 397,
          "referenceAllele": "G",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512081.1:c.34G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510383.1:p.Ala12Thr",
        "hgvsWellDefined": "XP_011510383.1:p.Ala12Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111922",
      "coordinates": [
        {
          "allele": "A",
          "end": 1835,
          "referenceAllele": "G",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.4:c.1708G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Ala570Thr",
        "hgvsWellDefined": "NP_003733.2:p.Ala570Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.1708G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.1708G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Ala570Thr"
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Ala570Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1946,
          "referenceAllele": "G",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.3:c.1750G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Ala584Thr",
        "hgvsWellDefined": "XP_006712880.1:p.Ala584Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2006,
          "referenceAllele": "G",
          "start": 2005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.2:c.1810G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Ala604Thr",
        "hgvsWellDefined": "XP_011510379.1:p.Ala604Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2006,
          "referenceAllele": "G",
          "start": 2005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.2:c.1810G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Ala604Thr",
        "hgvsWellDefined": "XP_011510380.1:p.Ala604Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2009,
          "referenceAllele": "G",
          "start": 2008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512080.2:c.1810G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510382.1:p.Ala604Thr",
        "hgvsWellDefined": "XP_011510382.1:p.Ala604Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 397,
          "referenceAllele": "G",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512081.2:c.34G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510383.1:p.Ala12Thr",
        "hgvsWellDefined": "XP_011510383.1:p.Ala12Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2008,
          "referenceAllele": "G",
          "start": 2007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005165.1:c.1810G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860654.1:p.Ala604Thr",
        "hgvsWellDefined": "XP_016860654.1:p.Ala604Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560508"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1132,
          "referenceAllele": "G",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005166.1:c.1039G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860655.1:p.Ala347Thr",
        "hgvsWellDefined": "XP_016860655.1:p.Ala347Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 690,
          "referenceAllele": "G",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005167.1:c.493G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860656.1:p.Ala165Thr",
        "hgvsWellDefined": "XP_016860656.1:p.Ala165Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560510"
    }
  ],
  "type": "nucleotide"
}