{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA999069502",
  "communityStandardTitle": [
    "NM_022089.4(ATP13A2):c.289-109T>A"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3738814",
        "rs": 3738814
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 17005181,
          "referenceAllele": "A",
          "start": 17005180
        }
      ],
      "hgvs": [
        "NC_000001.11:g.17005181A>T",
        "CM000663.2:g.17005181A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 17331676,
          "referenceAllele": "A",
          "start": 17331675
        }
      ],
      "hgvs": [
        "NC_000001.10:g.17331676A>T",
        "CM000663.1:g.17331676A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 17204263,
          "referenceAllele": "A",
          "start": 17204262
        }
      ],
      "hgvs": [
        "NC_000001.9:g.17204263A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11748,
          "referenceAllele": "T",
          "start": 11747
        }
      ],
      "hgvs": [
        "NG_009054.1:g.11748T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001396"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 478,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 478,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000326735.13:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327214.8:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746785",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326735.13:c.289-109T>A"
          },
          "RefSeq": {
            "hgvs": "NM_022089.4:c.289-109T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327214.8:n.289-109T>A"
          },
          "RefSeq": {
            "hgvs": "NP_071372.1:n.289-109T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 307,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 307,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "hgvs": [
        "ENST00000617114.5:c.308-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478781.2:n.308-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 322,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 322,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000326735.12:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327214.8:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258661"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 465,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 465,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000341676.9:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341115.5:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 478,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 478,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000452699.5:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413307.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 22,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000508222.5:c.23-109T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 265,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 265,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000509619.1:c.266-109T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 214,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000510069.5:c.215-109T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340682"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 478,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 478,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "ENST00000617114.4:c.-558-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478781.1:n.-558-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403341"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_001141973.2:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135445.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_001141974.2:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135446.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_022089.3:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071372.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037187"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245809.1:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245866.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057382"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245810.1:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245867.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245811.1:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245868.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245812.1:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245869.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245813.1:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245870.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_005245815.1:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245872.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057387"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_006710512.1:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710575.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_006710513.1:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710576.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_011541128.1:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539430.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_011541129.1:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539431.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000844.1:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856333.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000845.1:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856334.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000846.1:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856335.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000847.1:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856336.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000848.1:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856337.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000849.1:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856338.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000850.1:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856339.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 478,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 478,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_022089.4:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071372.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670368",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326735.13:c.289-109T>A"
          },
          "RefSeq": {
            "hgvs": "NM_022089.4:c.289-109T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327214.8:n.289-109T>A"
          },
          "RefSeq": {
            "hgvs": "NP_071372.1:n.289-109T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 478,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 478,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_001141973.3:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135445.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 478,
          "endIntronDirection": "-",
          "endIntronOffset": 108,
          "referenceAllele": "T",
          "start": 478,
          "startIntronDirection": "-",
          "startIntronOffset": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_001141974.3:c.289-109T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135446.1:n.289-109T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677480"
    }
  ],
  "type": "nucleotide"
}