{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10651961",
  "communityStandardTitle": [
    "NM_001374385.1(ATP8B1):c.782-5A>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=348915[alleleid]",
        "alleleId": 348915,
        "preferredName": "NM_001374385.1(ATP8B1):c.782-5A>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/327491",
        "RCV": [
          "RCV000404765",
          "RCV003574751"
        ],
        "variationId": 327491
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.55362566T>A?assembly=hg19",
        "id": "chr18:g.55362566T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.57695334T>A?assembly=hg38",
        "id": "chr18:g.57695334T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886054013",
        "rs": 886054013
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 57695334,
          "referenceAllele": "T",
          "start": 57695333
        }
      ],
      "hgvs": [
        "NC_000018.10:g.57695334T>A",
        "CM000680.2:g.57695334T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 55362566,
          "referenceAllele": "T",
          "start": 55362565
        }
      ],
      "hgvs": [
        "NC_000018.9:g.55362566T>A",
        "CM000680.1:g.55362566T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 53513564,
          "referenceAllele": "T",
          "start": 53513563
        }
      ],
      "hgvs": [
        "NC_000018.8:g.53513564T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 112762,
          "referenceAllele": "A",
          "start": 112761
        }
      ],
      "hgvs": [
        "NG_007148.2:g.112762A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 113489,
          "referenceAllele": "A",
          "start": 113488
        }
      ],
      "hgvs": [
        "NG_007148.3:g.113489A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616070"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 863,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 863,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000642462.1:c.782-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494712.1:n.782-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 876,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 876,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000648039.1:c.782-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497863.1:n.782-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 614,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 614,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000648467.1:c.615-5A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1124,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1124,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000648908.2:c.782-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497896.1:n.782-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770250",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648908.2:c.782-5A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001374385.1:c.782-5A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497896.1:n.782-5A>T"
          },
          "RefSeq": {
            "hgvs": "NP_001361314.1:n.782-5A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 781,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000283684.8:c.782-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000283684.4:n.782-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 901,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 901,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000536015.5:c.782-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445359.1:n.782-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 901,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 901,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_005603.4:c.782-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005594.1:n.782-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1631,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1631,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_006722481.2:c.782-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722544.1:n.782-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 846,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526020.1:c.782-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524322.1:n.782-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 825,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 825,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526021.1:c.782-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524323.1:n.782-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 864,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 864,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526022.1:c.782-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524324.1:n.782-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1517,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1517,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526023.1:c.668-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524325.1:n.668-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 301,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 301,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526024.1:c.62-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524326.1:n.62-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 31,
          "endIntronDirection": "-",
          "endIntronOffset": 610,
          "referenceAllele": "T",
          "start": 31,
          "startIntronDirection": "-",
          "startIntronOffset": 611
        }
      ],
      "hgvs": [
        "XR_935525.1:n.32-611T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 31,
          "endIntronDirection": "-",
          "endIntronOffset": 610,
          "referenceAllele": "T",
          "start": 31,
          "startIntronDirection": "-",
          "startIntronOffset": 611
        }
      ],
      "hgvs": [
        "XR_935526.1:n.32-611T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1121,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1121,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_005603.6:c.782-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005594.2:n.782-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1631,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1631,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_006722481.4:c.782-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722544.1:n.782-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1517,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1517,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526023.3:c.668-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524325.1:n.668-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548105"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1124,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1124,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_001374385.1:c.782-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361314.1:n.782-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693251",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648908.2:c.782-5A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001374385.1:c.782-5A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497896.1:n.782-5A>T"
          },
          "RefSeq": {
            "hgvs": "NP_001361314.1:n.782-5A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1026,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1026,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_001374386.1:c.632-5A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361315.1:n.632-5A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693252"
    }
  ],
  "type": "nucleotide"
}