{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16621741",
  "communityStandardTitle": [
    "NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=413523[alleleid]",
        "alleleId": 413523,
        "preferredName": "NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/425189",
        "RCV": [
          "RCV000488196",
          "RCV000501825",
          "RCV000624914",
          "RCV000692668",
          "RCV000850500",
          "RCV003335375"
        ],
        "variationId": 425189
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.42474692G>A?assembly=hg19",
        "id": "chr19:g.42474692G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41970540G>A?assembly=hg38",
        "id": "chr19:g.41970540G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064797245",
        "rs": 1064797245
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 41970540,
          "referenceAllele": "G",
          "start": 41970539
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41970540G>A",
        "CM000681.2:g.41970540G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 42474692,
          "referenceAllele": "G",
          "start": 42474691
        }
      ],
      "hgvs": [
        "NC_000019.9:g.42474692G>A",
        "CM000681.1:g.42474692G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 47166532,
          "referenceAllele": "G",
          "start": 47166531
        }
      ],
      "hgvs": [
        "NC_000019.8:g.47166532G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28691,
          "referenceAllele": "C",
          "start": 28690
        }
      ],
      "hgvs": [
        "NG_008015.1:g.28691C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000775"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2499,
          "referenceAllele": "C",
          "start": 2498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000545399.6:c.2305C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444688.1:p.Arg769Cys",
        "hgvsWellDefined": "ENSP00000444688.1:p.Arg769Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2422,
          "referenceAllele": "C",
          "start": 2421
        }
      ],
      "hgvs": [
        "ENST00000644613.1:c.2266C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494711.1:p.Arg756Cys",
        "hgvsWellDefined": "ENSP00000494711.1:p.Arg756Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2420,
          "referenceAllele": "C",
          "start": 2419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000648268.1:c.2266C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498113.1:p.Arg756Cys",
        "hgvsWellDefined": "ENSP00000498113.1:p.Arg756Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769875",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648268.1:c.2266C>T"
          },
          "RefSeq": {
            "hgvs": "NM_152296.5:c.2266C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498113.1:p.Arg756Cys"
          },
          "RefSeq": {
            "hgvs": "NP_689509.1:p.Arg756Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2466,
          "referenceAllele": "C",
          "start": 2465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000302102.9:c.2266C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302397.5:p.Arg756Cys",
        "hgvsWellDefined": "ENSP00000302397.5:p.Arg756Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255118"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2404,
          "referenceAllele": "C",
          "start": 2403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000441343.5:c.2266C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411503.1:p.Arg756Cys",
        "hgvsWellDefined": "ENSP00000411503.1:p.Arg756Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296353"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2335,
          "referenceAllele": "C",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000543770.5:c.2299C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437577.1:p.Arg767Cys",
        "hgvsWellDefined": "ENSP00000437577.1:p.Arg767Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2489,
          "referenceAllele": "C",
          "start": 2488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000545399.5:c.2305C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444688.1:p.Arg769Cys",
        "hgvsWellDefined": "ENSP00000444688.1:p.Arg769Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2329,
          "referenceAllele": "C",
          "start": 2328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000602133.5:c.2176C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471581.1:p.Arg726Cys",
        "hgvsWellDefined": "ENSP00000471581.1:p.Arg726Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826377198",
      "coordinates": [
        {
          "allele": "T",
          "end": 2335,
          "referenceAllele": "C",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_001256213.1:c.2299C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243142.1:p.Arg767Cys",
        "hgvsWellDefined": "NP_001243142.1:p.Arg767Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916008991",
      "coordinates": [
        {
          "allele": "T",
          "end": 2505,
          "referenceAllele": "C",
          "start": 2504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_001256214.1:c.2305C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243143.1:p.Arg769Cys",
        "hgvsWellDefined": "NP_001243143.1:p.Arg769Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645393543",
      "coordinates": [
        {
          "allele": "T",
          "end": 2466,
          "referenceAllele": "C",
          "start": 2465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_152296.4:c.2266C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689509.1:p.Arg756Cys",
        "hgvsWellDefined": "NP_689509.1:p.Arg756Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2329,
          "referenceAllele": "C",
          "start": 2328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "XM_011526991.1:c.2176C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525293.1:p.Arg726Cys",
        "hgvsWellDefined": "XP_011525293.1:p.Arg726Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094089"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645393543",
      "coordinates": [
        {
          "allele": "T",
          "end": 2420,
          "referenceAllele": "C",
          "start": 2419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_152296.5:c.2266C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689509.1:p.Arg756Cys",
        "hgvsWellDefined": "NP_689509.1:p.Arg756Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526630",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648268.1:c.2266C>T"
          },
          "RefSeq": {
            "hgvs": "NM_152296.5:c.2266C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498113.1:p.Arg756Cys"
          },
          "RefSeq": {
            "hgvs": "NP_689509.1:p.Arg756Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916008991",
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "referenceAllele": "C",
          "start": 2458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_001256214.2:c.2305C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243143.1:p.Arg769Cys",
        "hgvsWellDefined": "NP_001243143.1:p.Arg769Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680511"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826377198",
      "coordinates": [
        {
          "allele": "T",
          "end": 2335,
          "referenceAllele": "C",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_001256213.2:c.2299C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243142.1:p.Arg767Cys",
        "hgvsWellDefined": "NP_001243142.1:p.Arg767Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714730"
    }
  ],
  "type": "nucleotide"
}