{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA277238",
  "communityStandardTitle": [
    "NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=209243[alleleid]",
        "alleleId": 209243,
        "preferredName": "NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210418",
        "RCV": [
          "RCV000193991",
          "RCV001857689",
          "RCV002517916",
          "RCV003227709"
        ],
        "variationId": 210418
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77268382G>A?assembly=hg19",
        "id": "chrX:g.77268382G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.78012885G>A?assembly=hg38",
        "id": "chrX:g.78012885G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72554644",
        "rs": 72554644
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-78012885-G-A?dataset=gnomad_r4",
        "id": "X-78012885-G-A",
        "variant": "X:78012885 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 78012885,
          "referenceAllele": "G",
          "start": 78012884
        }
      ],
      "hgvs": [
        "NC_000023.11:g.78012885G>A",
        "CM000685.2:g.78012885G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 77268382,
          "referenceAllele": "G",
          "start": 77268381
        }
      ],
      "hgvs": [
        "NC_000023.10:g.77268382G>A",
        "CM000685.1:g.77268382G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 77155038,
          "referenceAllele": "G",
          "start": 77155037
        }
      ],
      "hgvs": [
        "NC_000023.9:g.77155038G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 107189,
          "referenceAllele": "G",
          "start": 107188
        }
      ],
      "hgvs": [
        "NG_013224.2:g.107189G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002729"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2399,
          "referenceAllele": "G",
          "start": 2398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000343533.10:c.2209G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343026.6:p.Gly737Arg",
        "hgvsWellDefined": "ENSP00000343026.6:p.Gly737Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 823,
          "endIntronDirection": "+",
          "endIntronOffset": 1211,
          "referenceAllele": "G",
          "start": 823,
          "startIntronDirection": "+",
          "startIntronOffset": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000682475.1:n.823+1211G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827465"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2371,
          "referenceAllele": "G",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000685264.1:c.2179G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510136.1:p.Gly727Arg",
        "hgvsWellDefined": "ENSP00000510136.1:p.Gly727Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829973"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2297,
          "referenceAllele": "G",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000686033.1:c.2179G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510693.1:p.Gly727Arg",
        "hgvsWellDefined": "ENSP00000510693.1:p.Gly727Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2350,
          "referenceAllele": "G",
          "start": 2349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000686133.1:c.2179G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509233.1:p.Gly727Arg",
        "hgvsWellDefined": "ENSP00000509233.1:p.Gly727Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1210,
          "referenceAllele": "G",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000686255.1:n.1210G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2290,
          "endIntronDirection": "+",
          "endIntronOffset": 1211,
          "referenceAllele": "G",
          "start": 2290,
          "startIntronDirection": "+",
          "startIntronOffset": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000686480.1:c.2172+1211G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508978.1:n.2172+1211G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830601"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2290,
          "endIntronDirection": "+",
          "endIntronOffset": 1211,
          "referenceAllele": "G",
          "start": 2290,
          "startIntronDirection": "+",
          "startIntronOffset": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000686543.1:c.2172+1211G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509477.1:n.2172+1211G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830623"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2341,
          "referenceAllele": "G",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000686688.1:c.2179G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509416.1:p.Gly727Arg",
        "hgvsWellDefined": "ENSP00000509416.1:p.Gly727Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2492,
          "referenceAllele": "G",
          "start": 2491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000687086.1:c.2179G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509566.1:p.Gly727Arg",
        "hgvsWellDefined": "ENSP00000509566.1:p.Gly727Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3535,
          "referenceAllele": "G",
          "start": 3534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000688746.1:n.3535G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 221,
          "referenceAllele": "G",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000689514.1:n.221G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2513,
          "referenceAllele": "G",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000689530.1:c.2179G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509707.1:p.Gly727Arg",
        "hgvsWellDefined": "ENSP00000509707.1:p.Gly727Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832222"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2297,
          "referenceAllele": "G",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000689649.1:c.2179G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509277.1:p.Gly727Arg",
        "hgvsWellDefined": "ENSP00000509277.1:p.Gly727Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832281"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2420,
          "referenceAllele": "G",
          "start": 2419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000689767.1:c.2272G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509406.1:p.Gly758Arg",
        "hgvsWellDefined": "ENSP00000509406.1:p.Gly758Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4794,
          "referenceAllele": "G",
          "start": 4793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000689872.1:c.*128G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509373.1:n.*128G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2482,
          "endIntronDirection": "+",
          "endIntronOffset": 1211,
          "referenceAllele": "G",
          "start": 2482,
          "startIntronDirection": "+",
          "startIntronOffset": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000692908.1:c.2172+1211G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508627.1:n.2172+1211G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833947"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2295,
          "referenceAllele": "G",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000693398.1:c.2179G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510089.1:p.Gly727Arg",
        "hgvsWellDefined": "ENSP00000510089.1:p.Gly727Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2343,
          "referenceAllele": "G",
          "start": 2342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000341514.11:c.2179G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345728.6:p.Gly727Arg",
        "hgvsWellDefined": "ENSP00000345728.6:p.Gly727Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748000",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341514.11:c.2179G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000052.7:c.2179G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345728.6:p.Gly727Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000043.4:p.Gly727Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 97,
          "endIntronDirection": "-",
          "endIntronOffset": 96981,
          "referenceAllele": "G",
          "start": 97,
          "startIntronDirection": "-",
          "startIntronOffset": 96982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008896",
      "geneNCBI_id": 5230,
      "geneSymbol": "PGK1",
      "hgvs": [
        "ENST00000644362.1:c.-19-96982G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496140.1:n.-19-96982G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767780"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2360,
          "referenceAllele": "G",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000645094.1:c.*2093G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493605.1:n.*2093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2334,
          "referenceAllele": "G",
          "start": 2333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000341514.10:c.2179G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345728.6:p.Gly727Arg",
        "hgvsWellDefined": "ENSP00000345728.6:p.Gly727Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2373,
          "endIntronDirection": "+",
          "endIntronOffset": 1211,
          "referenceAllele": "G",
          "start": 2373,
          "startIntronDirection": "+",
          "startIntronOffset": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000343533.9:c.2172+1211G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343026.5:n.2172+1211G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2307,
          "referenceAllele": "G",
          "start": 2306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000350425.5:c.*1352G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343678.5:n.*1352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277239",
      "coordinates": [
        {
          "allele": "A",
          "end": 2380,
          "referenceAllele": "G",
          "start": 2379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NM_000052.6:c.2179G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000043.4:p.Gly727Arg",
        "hgvsWellDefined": "NP_000043.4:p.Gly727Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2373,
          "endIntronDirection": "+",
          "endIntronOffset": 1211,
          "referenceAllele": "G",
          "start": 2373,
          "startIntronDirection": "+",
          "startIntronOffset": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NM_001282224.1:c.2172+1211G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269153.1:n.2172+1211G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021822"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 321,
          "endIntronDirection": "-",
          "endIntronOffset": 18514,
          "referenceAllele": "G",
          "start": 321,
          "startIntronDirection": "-",
          "startIntronOffset": 18515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NR_104109.1:n.322-18515G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277239",
      "coordinates": [
        {
          "allele": "A",
          "end": 2343,
          "referenceAllele": "G",
          "start": 2342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NM_000052.7:c.2179G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000043.4:p.Gly727Arg",
        "hgvsWellDefined": "NP_000043.4:p.Gly727Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662302",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341514.11:c.2179G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000052.7:c.2179G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345728.6:p.Gly727Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000043.4:p.Gly727Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284,
          "endIntronDirection": "-",
          "endIntronOffset": 18514,
          "referenceAllele": "G",
          "start": 284,
          "startIntronDirection": "-",
          "startIntronOffset": 18515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NR_104109.2:n.285-18515G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2336,
          "endIntronDirection": "+",
          "endIntronOffset": 1211,
          "referenceAllele": "G",
          "start": 2336,
          "startIntronDirection": "+",
          "startIntronOffset": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NM_001282224.2:c.2172+1211G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269153.1:n.2172+1211G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715769"
    }
  ],
  "type": "nucleotide"
}