{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA637088",
  "communityStandardTitle": [
    "NM_022089.4(ATP13A2):c.1767G>A (p.Pro589=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=690412[alleleid]",
        "alleleId": 690412,
        "preferredName": "NM_022089.4(ATP13A2):c.1767G>A (p.Pro589=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/707755",
        "RCV": [
          "RCV000878894",
          "RCV001101081",
          "RCV001288805"
        ],
        "variationId": 707755
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-17319059-C-T",
        "id": "1-17319059-C-T",
        "variant": "1:17319059 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.17319059C>T?assembly=hg19",
        "id": "chr1:g.17319059C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.16992564C>T?assembly=hg38",
        "id": "chr1:g.16992564C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/752208167",
        "rs": 752208167
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-17319059-C-T?dataset=gnomad_r2_1",
        "id": "1-17319059-C-T",
        "variant": "1:17319059 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-16992564-C-T?dataset=gnomad_r3",
        "id": "1-16992564-C-T",
        "variant": "1:16992564 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-16992564-C-T?dataset=gnomad_r4",
        "id": "1-16992564-C-T",
        "variant": "1:16992564 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 16992564,
          "referenceAllele": "C",
          "start": 16992563
        }
      ],
      "hgvs": [
        "NC_000001.11:g.16992564C>T",
        "CM000663.2:g.16992564C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 17319059,
          "referenceAllele": "C",
          "start": 17319058
        }
      ],
      "hgvs": [
        "NC_000001.10:g.17319059C>T",
        "CM000663.1:g.17319059C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 17191646,
          "referenceAllele": "C",
          "start": 17191645
        }
      ],
      "hgvs": [
        "NC_000001.9:g.17191646C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 24365,
          "referenceAllele": "G",
          "start": 24364
        }
      ],
      "hgvs": [
        "NG_009054.1:g.24365G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001396"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1957,
          "referenceAllele": "G",
          "start": 1956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000326735.13:c.1767G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327214.8:p.Pro589="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746785",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326735.13:c.1767G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022089.4:c.1767G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327214.8:p.Pro589="
          },
          "RefSeq": {
            "hgvs": "NP_071372.1:p.Pro589="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1801,
          "referenceAllele": "G",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000326735.12:c.1767G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327214.8:p.Pro589="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258661"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1929,
          "referenceAllele": "G",
          "start": 1928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000341676.9:c.1752G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341115.5:p.Pro584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1942,
          "referenceAllele": "G",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000452699.5:c.1752G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413307.1:p.Pro584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 237,
          "referenceAllele": "G",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000503552.1:c.237G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421126.1:p.Pro79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335833"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825835413",
      "coordinates": [
        {
          "allele": "A",
          "end": 1986,
          "referenceAllele": "G",
          "start": 1985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_001141973.2:c.1752G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135445.1:p.Pro584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825836774",
      "coordinates": [
        {
          "allele": "A",
          "end": 1986,
          "referenceAllele": "G",
          "start": 1985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_001141974.2:c.1752G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135446.1:p.Pro584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829965717",
      "coordinates": [
        {
          "allele": "A",
          "end": 2001,
          "referenceAllele": "G",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_022089.3:c.1767G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071372.1:p.Pro589="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037187"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2001,
          "referenceAllele": "G",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245809.1:c.1767G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245866.1:p.Pro589="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057382"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1998,
          "referenceAllele": "G",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245810.1:c.1764G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245867.1:p.Pro588="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1986,
          "referenceAllele": "G",
          "start": 1985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245811.1:c.1752G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245868.1:p.Pro584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1974,
          "referenceAllele": "G",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245812.1:c.1740G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245869.1:p.Pro580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2001,
          "referenceAllele": "G",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245813.1:c.1767G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245870.1:p.Pro589="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2001,
          "referenceAllele": "G",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245815.1:c.1767G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245872.1:p.Pro589="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057387"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1983,
          "referenceAllele": "G",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_006710512.1:c.1749G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710575.1:p.Pro583="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1959,
          "referenceAllele": "G",
          "start": 1958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_006710513.1:c.1725G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710576.1:p.Pro575="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1986,
          "referenceAllele": "G",
          "start": 1985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_011541128.1:c.1752G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539430.1:p.Pro584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1794,
          "referenceAllele": "G",
          "start": 1793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_011541129.1:c.1560G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539431.1:p.Pro520="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1986,
          "referenceAllele": "G",
          "start": 1985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000844.1:c.1752G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856333.1:p.Pro584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1983,
          "referenceAllele": "G",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000845.1:c.1749G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856334.1:p.Pro583="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1959,
          "referenceAllele": "G",
          "start": 1958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000846.1:c.1725G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856335.1:p.Pro575="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1956,
          "referenceAllele": "G",
          "start": 1955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000847.1:c.1722G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856336.1:p.Pro574="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2001,
          "referenceAllele": "G",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000848.1:c.1767G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856337.1:p.Pro589="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1986,
          "referenceAllele": "G",
          "start": 1985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000849.1:c.1752G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856338.1:p.Pro584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1794,
          "referenceAllele": "G",
          "start": 1793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000850.1:c.1560G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856339.1:p.Pro520="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557130"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829965717",
      "coordinates": [
        {
          "allele": "A",
          "end": 1957,
          "referenceAllele": "G",
          "start": 1956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_022089.4:c.1767G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071372.1:p.Pro589="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670368",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326735.13:c.1767G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022089.4:c.1767G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327214.8:p.Pro589="
          },
          "RefSeq": {
            "hgvs": "NP_071372.1:p.Pro589="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825835413",
      "coordinates": [
        {
          "allele": "A",
          "end": 1942,
          "referenceAllele": "G",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_001141973.3:c.1752G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135445.1:p.Pro584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677479"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825836774",
      "coordinates": [
        {
          "allele": "A",
          "end": 1942,
          "referenceAllele": "G",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_001141974.3:c.1752G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135446.1:p.Pro584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677480"
    }
  ],
  "type": "nucleotide"
}