{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9467231",
  "communityStandardTitle": [
    "NM_152296.5(ATP1A3):c.3006C>T (p.Asn1002=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1588431[alleleid]",
        "alleleId": 1588431,
        "preferredName": "NM_152296.5(ATP1A3):c.3006C>T (p.Asn1002=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1663608",
        "RCV": [
          "RCV002188593"
        ],
        "variationId": 1663608
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-42471408-G-A",
        "id": "19-42471408-G-A",
        "variant": "19:42471408 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.42471408G>A?assembly=hg19",
        "id": "chr19:g.42471408G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41967256G>A?assembly=hg38",
        "id": "chr19:g.41967256G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782086452",
        "rs": 782086452
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-42471408-G-A?dataset=gnomad_r2_1",
        "id": "19-42471408-G-A",
        "variant": "19:42471408 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41967256-G-A?dataset=gnomad_r3",
        "id": "19-41967256-G-A",
        "variant": "19:41967256 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41967256-G-A?dataset=gnomad_r4",
        "id": "19-41967256-G-A",
        "variant": "19:41967256 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 41967256,
          "referenceAllele": "G",
          "start": 41967255
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41967256G>A",
        "CM000681.2:g.41967256G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 42471408,
          "referenceAllele": "G",
          "start": 42471407
        }
      ],
      "hgvs": [
        "NC_000019.9:g.42471408G>A",
        "CM000681.1:g.42471408G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 47163248,
          "referenceAllele": "G",
          "start": 47163247
        }
      ],
      "hgvs": [
        "NC_000019.8:g.47163248G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 31975,
          "referenceAllele": "C",
          "start": 31974
        }
      ],
      "hgvs": [
        "NG_008015.1:g.31975C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000775"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3239,
          "referenceAllele": "C",
          "start": 3238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000545399.6:c.3045C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444688.1:p.Asn1015="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3162,
          "referenceAllele": "C",
          "start": 3161
        }
      ],
      "hgvs": [
        "ENST00000644613.1:c.3006C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494711.1:p.Asn1002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3160,
          "referenceAllele": "C",
          "start": 3159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000648268.1:c.3006C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498113.1:p.Asn1002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769875",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648268.1:c.3006C>T"
          },
          "RefSeq": {
            "hgvs": "NM_152296.5:c.3006C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498113.1:p.Asn1002="
          },
          "RefSeq": {
            "hgvs": "NP_689509.1:p.Asn1002="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3206,
          "referenceAllele": "C",
          "start": 3205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000302102.9:c.3006C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302397.5:p.Asn1002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255118"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3144,
          "referenceAllele": "C",
          "start": 3143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000441343.5:c.3006C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411503.1:p.Asn1002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296353"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3075,
          "referenceAllele": "C",
          "start": 3074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000543770.5:c.3039C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437577.1:p.Asn1013="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3229,
          "referenceAllele": "C",
          "start": 3228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000545399.5:c.3045C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444688.1:p.Asn1015="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3069,
          "referenceAllele": "C",
          "start": 3068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "ENST00000602133.5:c.2916C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471581.1:p.Asn972="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826377412",
      "coordinates": [
        {
          "allele": "T",
          "end": 3075,
          "referenceAllele": "C",
          "start": 3074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_001256213.1:c.3039C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243142.1:p.Asn1013="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826377757",
      "coordinates": [
        {
          "allele": "T",
          "end": 3245,
          "referenceAllele": "C",
          "start": 3244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_001256214.1:c.3045C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243143.1:p.Asn1015="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830295889",
      "coordinates": [
        {
          "allele": "T",
          "end": 3206,
          "referenceAllele": "C",
          "start": 3205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_152296.4:c.3006C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689509.1:p.Asn1002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3069,
          "referenceAllele": "C",
          "start": 3068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "XM_011526991.1:c.2916C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525293.1:p.Asn972="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094089"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830295889",
      "coordinates": [
        {
          "allele": "T",
          "end": 3160,
          "referenceAllele": "C",
          "start": 3159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_152296.5:c.3006C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689509.1:p.Asn1002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526630",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648268.1:c.3006C>T"
          },
          "RefSeq": {
            "hgvs": "NM_152296.5:c.3006C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498113.1:p.Asn1002="
          },
          "RefSeq": {
            "hgvs": "NP_689509.1:p.Asn1002="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826377757",
      "coordinates": [
        {
          "allele": "T",
          "end": 3199,
          "referenceAllele": "C",
          "start": 3198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_001256214.2:c.3045C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243143.1:p.Asn1015="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680511"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826377412",
      "coordinates": [
        {
          "allele": "T",
          "end": 3075,
          "referenceAllele": "C",
          "start": 3074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_001256213.2:c.3039C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243142.1:p.Asn1013="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714730"
    }
  ],
  "type": "nucleotide"
}