{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA636581",
  "communityStandardTitle": [
    "NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=277530[alleleid]",
        "alleleId": 277530,
        "preferredName": "NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/293771",
        "RCV": [
          "RCV000396839",
          "RCV000527414",
          "RCV002321972"
        ],
        "variationId": 293771
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-17313342-C-T",
        "id": "1-17313342-C-T",
        "variant": "1:17313342 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.17313342C>T?assembly=hg19",
        "id": "chr1:g.17313342C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.16986847C>T?assembly=hg38",
        "id": "chr1:g.16986847C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/377431904",
        "rs": 377431904
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-17313342-C-T?dataset=gnomad_r2_1",
        "id": "1-17313342-C-T",
        "variant": "1:17313342 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-16986847-C-T?dataset=gnomad_r3",
        "id": "1-16986847-C-T",
        "variant": "1:16986847 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-16986847-C-T?dataset=gnomad_r4",
        "id": "1-16986847-C-T",
        "variant": "1:16986847 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 16986847,
          "referenceAllele": "C",
          "start": 16986846
        }
      ],
      "hgvs": [
        "NC_000001.11:g.16986847C>T",
        "CM000663.2:g.16986847C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 17313342,
          "referenceAllele": "C",
          "start": 17313341
        }
      ],
      "hgvs": [
        "NC_000001.10:g.17313342C>T",
        "CM000663.1:g.17313342C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 17185929,
          "referenceAllele": "C",
          "start": 17185928
        }
      ],
      "hgvs": [
        "NC_000001.9:g.17185929C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 30082,
          "referenceAllele": "G",
          "start": 30081
        }
      ],
      "hgvs": [
        "NG_009054.1:g.30082G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001396"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3383,
          "referenceAllele": "G",
          "start": 3382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000326735.13:c.3193G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327214.8:p.Val1065Met",
        "hgvsWellDefined": "ENSP00000327214.8:p.Val1065Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746785",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326735.13:c.3193G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022089.4:c.3193G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327214.8:p.Val1065Met"
          },
          "RefSeq": {
            "hgvs": "NP_071372.1:p.Val1065Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3227,
          "referenceAllele": "G",
          "start": 3226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000326735.12:c.3193G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327214.8:p.Val1065Met",
        "hgvsWellDefined": "ENSP00000327214.8:p.Val1065Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258661"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3238,
          "referenceAllele": "G",
          "start": 3237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000341676.9:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341115.5:p.Val1021Met",
        "hgvsWellDefined": "ENSP00000341115.5:p.Val1021Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3368,
          "referenceAllele": "G",
          "start": 3367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000452699.5:c.3178G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413307.1:p.Val1060Met",
        "hgvsWellDefined": "ENSP00000413307.1:p.Val1060Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1067,
          "referenceAllele": "G",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000466561.1:n.1067G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 781,
          "referenceAllele": "G",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000502418.1:c.781G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423065.1:p.Val261Met",
        "hgvsWellDefined": "ENSP00000423065.1:p.Val261Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334988"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825835890",
      "coordinates": [
        {
          "allele": "A",
          "end": 3412,
          "referenceAllele": "G",
          "start": 3411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_001141973.2:c.3178G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135445.1:p.Val1060Met",
        "hgvsWellDefined": "NP_001135445.1:p.Val1060Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825837336",
      "coordinates": [
        {
          "allele": "A",
          "end": 3295,
          "referenceAllele": "G",
          "start": 3294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_001141974.2:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135446.1:p.Val1021Met",
        "hgvsWellDefined": "NP_001135446.1:p.Val1021Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645406819",
      "coordinates": [
        {
          "allele": "A",
          "end": 3427,
          "referenceAllele": "G",
          "start": 3426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_022089.3:c.3193G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071372.1:p.Val1065Met",
        "hgvsWellDefined": "NP_071372.1:p.Val1065Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037187"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3427,
          "referenceAllele": "G",
          "start": 3426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245809.1:c.3193G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245866.1:p.Val1065Met",
        "hgvsWellDefined": "XP_005245866.1:p.Val1065Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057382"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3424,
          "referenceAllele": "G",
          "start": 3423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245810.1:c.3190G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245867.1:p.Val1064Met",
        "hgvsWellDefined": "XP_005245867.1:p.Val1064Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3412,
          "referenceAllele": "G",
          "start": 3411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245811.1:c.3178G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245868.1:p.Val1060Met",
        "hgvsWellDefined": "XP_005245868.1:p.Val1060Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3400,
          "referenceAllele": "G",
          "start": 3399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245812.1:c.3166G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245869.1:p.Val1056Met",
        "hgvsWellDefined": "XP_005245869.1:p.Val1056Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3367,
          "referenceAllele": "G",
          "start": 3366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245813.1:c.3133G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245870.1:p.Val1045Met",
        "hgvsWellDefined": "XP_005245870.1:p.Val1045Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3310,
          "referenceAllele": "G",
          "start": 3309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245815.1:c.3076G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245872.1:p.Val1026Met",
        "hgvsWellDefined": "XP_005245872.1:p.Val1026Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057387"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3409,
          "referenceAllele": "G",
          "start": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_006710512.1:c.3175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710575.1:p.Val1059Met",
        "hgvsWellDefined": "XP_006710575.1:p.Val1059Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3385,
          "referenceAllele": "G",
          "start": 3384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_006710513.1:c.3151G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710576.1:p.Val1051Met",
        "hgvsWellDefined": "XP_006710576.1:p.Val1051Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3412,
          "referenceAllele": "G",
          "start": 3411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_011541128.1:c.3178G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539430.1:p.Val1060Met",
        "hgvsWellDefined": "XP_011539430.1:p.Val1060Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3220,
          "referenceAllele": "G",
          "start": 3219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_011541129.1:c.2986G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539431.1:p.Val996Met",
        "hgvsWellDefined": "XP_011539431.1:p.Val996Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3412,
          "referenceAllele": "G",
          "start": 3411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000844.1:c.3178G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856333.1:p.Val1060Met",
        "hgvsWellDefined": "XP_016856333.1:p.Val1060Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3409,
          "referenceAllele": "G",
          "start": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000845.1:c.3175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856334.1:p.Val1059Met",
        "hgvsWellDefined": "XP_016856334.1:p.Val1059Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3385,
          "referenceAllele": "G",
          "start": 3384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000846.1:c.3151G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856335.1:p.Val1051Met",
        "hgvsWellDefined": "XP_016856335.1:p.Val1051Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3382,
          "referenceAllele": "G",
          "start": 3381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000847.1:c.3148G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856336.1:p.Val1050Met",
        "hgvsWellDefined": "XP_016856336.1:p.Val1050Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3310,
          "referenceAllele": "G",
          "start": 3309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000848.1:c.3076G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856337.1:p.Val1026Met",
        "hgvsWellDefined": "XP_016856337.1:p.Val1026Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3295,
          "referenceAllele": "G",
          "start": 3294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000849.1:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856338.1:p.Val1021Met",
        "hgvsWellDefined": "XP_016856338.1:p.Val1021Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3220,
          "referenceAllele": "G",
          "start": 3219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000850.1:c.2986G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856339.1:p.Val996Met",
        "hgvsWellDefined": "XP_016856339.1:p.Val996Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557130"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645406819",
      "coordinates": [
        {
          "allele": "A",
          "end": 3383,
          "referenceAllele": "G",
          "start": 3382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_022089.4:c.3193G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071372.1:p.Val1065Met",
        "hgvsWellDefined": "NP_071372.1:p.Val1065Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670368",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326735.13:c.3193G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022089.4:c.3193G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327214.8:p.Val1065Met"
          },
          "RefSeq": {
            "hgvs": "NP_071372.1:p.Val1065Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825835890",
      "coordinates": [
        {
          "allele": "A",
          "end": 3368,
          "referenceAllele": "G",
          "start": 3367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_001141973.3:c.3178G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135445.1:p.Val1060Met",
        "hgvsWellDefined": "NP_001135445.1:p.Val1060Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677479"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825837336",
      "coordinates": [
        {
          "allele": "A",
          "end": 3251,
          "referenceAllele": "G",
          "start": 3250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_001141974.3:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135446.1:p.Val1021Met",
        "hgvsWellDefined": "NP_001135446.1:p.Val1021Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677480"
    }
  ],
  "type": "nucleotide"
}