{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406039551",
  "communityStandardTitle": [
    "NM_152296.5(ATP1A3):c.2332A>C (p.Thr778Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=798754[alleleid]",
        "alleleId": 798754,
        "preferredName": "NM_152296.5(ATP1A3):c.2332A>C (p.Thr778Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/807378",
        "RCV": [
          "RCV000995499"
        ],
        "variationId": 807378
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.42474626T>G?assembly=hg19",
        "id": "chr19:g.42474626T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41970474T>G?assembly=hg38",
        "id": "chr19:g.41970474T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1599706511",
        "rs": 1599706511
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 41970474,
          "referenceAllele": "T",
          "start": 41970473
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41970474T>G",
        "CM000681.2:g.41970474T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 42474626,
          "referenceAllele": "T",
          "start": 42474625
        }
      ],
      "hgvs": [
        "NC_000019.9:g.42474626T>G",
        "CM000681.1:g.42474626T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 47166466,
          "referenceAllele": "T",
          "start": 47166465
        }
      ],
      "hgvs": [
        "NC_000019.8:g.47166466T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 28757,
          "referenceAllele": "A",
          "start": 28756
        }
      ],
      "hgvs": [
        "NG_008015.1:g.28757A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000775"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2565,
          "referenceAllele": "A",
          "start": 2564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000545399.6:c.2371A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444688.1:p.Thr791Pro",
        "hgvsWellDefined": "ENSP00000444688.1:p.Thr791Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759801"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2488,
          "referenceAllele": "A",
          "start": 2487
        }
      ],
      "hgvs": [
        "ENST00000644613.1:c.2332A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494711.1:p.Thr778Pro",
        "hgvsWellDefined": "ENSP00000494711.1:p.Thr778Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767901"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2486,
          "referenceAllele": "A",
          "start": 2485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000648268.1:c.2332A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498113.1:p.Thr778Pro",
        "hgvsWellDefined": "ENSP00000498113.1:p.Thr778Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769875",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648268.1:c.2332A>C"
          },
          "RefSeq": {
            "hgvs": "NM_152296.5:c.2332A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498113.1:p.Thr778Pro"
          },
          "RefSeq": {
            "hgvs": "NP_689509.1:p.Thr778Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2532,
          "referenceAllele": "A",
          "start": 2531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000302102.9:c.2332A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302397.5:p.Thr778Pro",
        "hgvsWellDefined": "ENSP00000302397.5:p.Thr778Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2470,
          "referenceAllele": "A",
          "start": 2469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000441343.5:c.2332A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411503.1:p.Thr778Pro",
        "hgvsWellDefined": "ENSP00000411503.1:p.Thr778Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296353"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2401,
          "referenceAllele": "A",
          "start": 2400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000543770.5:c.2365A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437577.1:p.Thr789Pro",
        "hgvsWellDefined": "ENSP00000437577.1:p.Thr789Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364198"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2555,
          "referenceAllele": "A",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000545399.5:c.2371A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444688.1:p.Thr791Pro",
        "hgvsWellDefined": "ENSP00000444688.1:p.Thr791Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2395,
          "referenceAllele": "A",
          "start": 2394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000602133.5:c.2242A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471581.1:p.Thr748Pro",
        "hgvsWellDefined": "ENSP00000471581.1:p.Thr748Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826377219",
      "coordinates": [
        {
          "allele": "C",
          "end": 2401,
          "referenceAllele": "A",
          "start": 2400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_001256213.1:c.2365A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243142.1:p.Thr789Pro",
        "hgvsWellDefined": "NP_001243142.1:p.Thr789Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916009012",
      "coordinates": [
        {
          "allele": "C",
          "end": 2571,
          "referenceAllele": "A",
          "start": 2570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_001256214.1:c.2371A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243143.1:p.Thr791Pro",
        "hgvsWellDefined": "NP_001243143.1:p.Thr791Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830295492",
      "coordinates": [
        {
          "allele": "C",
          "end": 2532,
          "referenceAllele": "A",
          "start": 2531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_152296.4:c.2332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_689509.1:p.Thr778Pro",
        "hgvsWellDefined": "NP_689509.1:p.Thr778Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041759"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2395,
          "referenceAllele": "A",
          "start": 2394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "XM_011526991.1:c.2242A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525293.1:p.Thr748Pro",
        "hgvsWellDefined": "XP_011525293.1:p.Thr748Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094089"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830295492",
      "coordinates": [
        {
          "allele": "C",
          "end": 2486,
          "referenceAllele": "A",
          "start": 2485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_152296.5:c.2332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_689509.1:p.Thr778Pro",
        "hgvsWellDefined": "NP_689509.1:p.Thr778Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526630",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648268.1:c.2332A>C"
          },
          "RefSeq": {
            "hgvs": "NM_152296.5:c.2332A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498113.1:p.Thr778Pro"
          },
          "RefSeq": {
            "hgvs": "NP_689509.1:p.Thr778Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916009012",
      "coordinates": [
        {
          "allele": "C",
          "end": 2525,
          "referenceAllele": "A",
          "start": 2524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_001256214.2:c.2371A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243143.1:p.Thr791Pro",
        "hgvsWellDefined": "NP_001243143.1:p.Thr791Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680511"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826377219",
      "coordinates": [
        {
          "allele": "C",
          "end": 2401,
          "referenceAllele": "A",
          "start": 2400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_001256213.2:c.2365A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243142.1:p.Thr789Pro",
        "hgvsWellDefined": "NP_001243142.1:p.Thr789Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714730"
    }
  ],
  "type": "nucleotide"
}