{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9467909",
  "communityStandardTitle": [
    "NM_152296.5(ATP1A3):c.291G>A (p.Gly97=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1881604[alleleid]",
        "alleleId": 1881604,
        "preferredName": "NM_152296.5(ATP1A3):c.291G>A (p.Gly97=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2150138",
        "RCV": [
          "RCV003083348"
        ],
        "variationId": 2150138
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-42492154-C-T",
        "id": "19-42492154-C-T",
        "variant": "19:42492154 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.42492154C>T?assembly=hg19",
        "id": "chr19:g.42492154C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41988002C>T?assembly=hg38",
        "id": "chr19:g.41988002C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782634422",
        "rs": 782634422
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-42492154-C-T?dataset=gnomad_r2_1",
        "id": "19-42492154-C-T",
        "variant": "19:42492154 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41988002-C-T?dataset=gnomad_r4",
        "id": "19-41988002-C-T",
        "variant": "19:41988002 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 41988002,
          "referenceAllele": "C",
          "start": 41988001
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41988002C>T",
        "CM000681.2:g.41988002C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 42492154,
          "referenceAllele": "C",
          "start": 42492153
        }
      ],
      "hgvs": [
        "NC_000019.9:g.42492154C>T",
        "CM000681.1:g.42492154C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 47183994,
          "referenceAllele": "C",
          "start": 47183993
        }
      ],
      "hgvs": [
        "NC_000019.8:g.47183994C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11229,
          "referenceAllele": "G",
          "start": 11228
        }
      ],
      "hgvs": [
        "NG_008015.1:g.11229G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000775"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 524,
          "referenceAllele": "G",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000545399.6:c.330G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444688.1:p.Gly110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "referenceAllele": "G",
          "start": 446
        }
      ],
      "hgvs": [
        "ENST00000644613.1:c.291G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494711.1:p.Gly97="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 445,
          "referenceAllele": "G",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000648268.1:c.291G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498113.1:p.Gly97="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769875",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648268.1:c.291G>A"
          },
          "RefSeq": {
            "hgvs": "NM_152296.5:c.291G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498113.1:p.Gly97="
          },
          "RefSeq": {
            "hgvs": "NP_689509.1:p.Gly97="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 491,
          "referenceAllele": "G",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000302102.9:c.291G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302397.5:p.Gly97="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255118"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 429,
          "referenceAllele": "G",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000441343.5:c.291G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411503.1:p.Gly97="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296353"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 600,
          "referenceAllele": "G",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000468774.3:n.600G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 336,
          "referenceAllele": "G",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000473086.3:c.201G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469129.2:p.Gly67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 360,
          "referenceAllele": "G",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000543770.5:c.324G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437577.1:p.Gly108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "referenceAllele": "G",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000545399.5:c.330G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444688.1:p.Gly110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000602133.5:c.201G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471581.1:p.Gly67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826376718",
      "coordinates": [
        {
          "allele": "A",
          "end": 360,
          "referenceAllele": "G",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_001256213.1:c.324G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243142.1:p.Gly108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826377464",
      "coordinates": [
        {
          "allele": "A",
          "end": 530,
          "referenceAllele": "G",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_001256214.1:c.330G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243143.1:p.Gly110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830294703",
      "coordinates": [
        {
          "allele": "A",
          "end": 491,
          "referenceAllele": "G",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_152296.4:c.291G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_689509.1:p.Gly97="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041759"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "XM_011526991.1:c.201G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525293.1:p.Gly67="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094089"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830294703",
      "coordinates": [
        {
          "allele": "A",
          "end": 445,
          "referenceAllele": "G",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_152296.5:c.291G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_689509.1:p.Gly97="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526630",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648268.1:c.291G>A"
          },
          "RefSeq": {
            "hgvs": "NM_152296.5:c.291G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498113.1:p.Gly97="
          },
          "RefSeq": {
            "hgvs": "NP_689509.1:p.Gly97="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826377464",
      "coordinates": [
        {
          "allele": "A",
          "end": 484,
          "referenceAllele": "G",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_001256214.2:c.330G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243143.1:p.Gly110="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680511"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826376718",
      "coordinates": [
        {
          "allele": "A",
          "end": 360,
          "referenceAllele": "G",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_001256213.2:c.324G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243142.1:p.Gly108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714730"
    }
  ],
  "type": "nucleotide"
}