{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2439100459",
  "communityStandardTitle": [
    "NM_000052.7(ATP7A):c.1910C= (p.Ser637=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/151340631",
        "rs": 151340631
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 78011216,
          "referenceAllele": "C",
          "start": 78011215
        }
      ],
      "hgvs": [
        "NC_000023.11:g.78011216C=",
        "CM000685.2:g.78011216C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 77266713,
          "referenceAllele": "C",
          "start": 77266712
        }
      ],
      "hgvs": [
        "NC_000023.10:g.77266713C=",
        "CM000685.1:g.77266713C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 77153369,
          "referenceAllele": "C",
          "start": 77153368
        }
      ],
      "hgvs": [
        "NC_000023.9:g.77153369C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 105520,
          "referenceAllele": "C",
          "start": 105519
        }
      ],
      "hgvs": [
        "NG_013224.2:g.105520C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002729"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2130,
          "referenceAllele": "C",
          "start": 2129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000343533.10:c.1940C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343026.6:p.Ser647="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 365,
          "referenceAllele": "C",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000682475.1:n.365C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827465"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2102,
          "referenceAllele": "C",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000685264.1:c.1910C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510136.1:p.Ser637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829973"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2028,
          "referenceAllele": "C",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000686033.1:c.1910C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510693.1:p.Ser637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2081,
          "referenceAllele": "C",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000686133.1:c.1910C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509233.1:p.Ser637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 745,
          "referenceAllele": "C",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000686255.1:n.745C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830484"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2028,
          "referenceAllele": "C",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000686480.1:c.1910C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508978.1:p.Ser637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830601"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2050,
          "referenceAllele": "C",
          "start": 2049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000686515.1:n.2050C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830609"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2028,
          "referenceAllele": "C",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000686543.1:c.1910C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509477.1:p.Ser637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2072,
          "referenceAllele": "C",
          "start": 2071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000686688.1:c.1910C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509416.1:p.Ser637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830699"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2221,
          "referenceAllele": "C",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000686999.1:n.2221C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2223,
          "referenceAllele": "C",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000687086.1:c.1910C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509566.1:p.Ser637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830901"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3923,
          "referenceAllele": "C",
          "start": 3922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000687628.1:n.3923C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831183"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2062,
          "referenceAllele": "C",
          "start": 2061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000688746.1:n.2062C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831794"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2244,
          "referenceAllele": "C",
          "start": 2243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000689530.1:c.1910C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509707.1:p.Ser637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832222"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2028,
          "referenceAllele": "C",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000689649.1:c.1910C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509277.1:p.Ser637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832281"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2151,
          "referenceAllele": "C",
          "start": 2150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000689767.1:c.2003C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509406.1:p.Ser668="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4561,
          "endIntronDirection": "-",
          "endIntronOffset": 232,
          "referenceAllele": "C",
          "start": 4561,
          "startIntronDirection": "-",
          "startIntronOffset": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000689872.1:c.1870-233C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509373.1:n.1870-233C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832417"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1940,
          "referenceAllele": "C",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000692110.1:c.1826C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509366.1:p.Ser609="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833547"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2220,
          "referenceAllele": "C",
          "start": 2219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000692908.1:c.1910C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508627.1:p.Ser637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833947"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2026,
          "referenceAllele": "C",
          "start": 2025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000693398.1:c.1910C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510089.1:p.Ser637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2074,
          "referenceAllele": "C",
          "start": 2073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000341514.11:c.1910C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345728.6:p.Ser637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748000",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341514.11:c.1910C="
          },
          "RefSeq": {
            "hgvs": "NM_000052.7:c.1910C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345728.6:p.Ser637="
          },
          "RefSeq": {
            "hgvs": "NP_000043.4:p.Ser637="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 97,
          "endIntronDirection": "-",
          "endIntronOffset": 98650,
          "referenceAllele": "C",
          "start": 97,
          "startIntronDirection": "-",
          "startIntronOffset": 98651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008896",
      "geneNCBI_id": 5230,
      "geneSymbol": "PGK1",
      "hgvs": [
        "ENST00000644362.1:c.-19-98651C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496140.1:n.-19-98651C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767780"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2091,
          "referenceAllele": "C",
          "start": 2090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000645094.1:c.*1824C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493605.1:n.*1824C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2065,
          "referenceAllele": "C",
          "start": 2064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000341514.10:c.1910C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345728.6:p.Ser637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2111,
          "referenceAllele": "C",
          "start": 2110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000343533.9:c.1910C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343026.5:p.Ser637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2038,
          "referenceAllele": "C",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000350425.5:c.*1083C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343678.5:n.*1083C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063212051",
      "coordinates": [
        {
          "allele": "C",
          "end": 2111,
          "referenceAllele": "C",
          "start": 2110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NM_000052.6:c.1910C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000043.4:p.Ser637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2111,
          "referenceAllele": "C",
          "start": 2110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NM_001282224.1:c.1910C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001269153.1:p.Ser637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021822"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 321,
          "endIntronDirection": "-",
          "endIntronOffset": 20183,
          "referenceAllele": "C",
          "start": 321,
          "startIntronDirection": "-",
          "startIntronOffset": 20184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NR_104109.1:n.322-20184C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063212051",
      "coordinates": [
        {
          "allele": "C",
          "end": 2074,
          "referenceAllele": "C",
          "start": 2073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NM_000052.7:c.1910C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000043.4:p.Ser637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662302",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341514.11:c.1910C="
          },
          "RefSeq": {
            "hgvs": "NM_000052.7:c.1910C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345728.6:p.Ser637="
          },
          "RefSeq": {
            "hgvs": "NP_000043.4:p.Ser637="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284,
          "endIntronDirection": "-",
          "endIntronOffset": 20183,
          "referenceAllele": "C",
          "start": 284,
          "startIntronDirection": "-",
          "startIntronOffset": 20184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NR_104109.2:n.285-20184C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702930"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2074,
          "referenceAllele": "C",
          "start": 2073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NM_001282224.2:c.1910C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001269153.1:p.Ser637="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715769"
    }
  ],
  "type": "nucleotide"
}