{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2427845509",
  "communityStandardTitle": [
    "NM_003334.4(UBA1):c.1639A= (p.Ser547=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80356546",
        "rs": 80356546
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 47206011,
          "referenceAllele": "A",
          "start": 47206010
        }
      ],
      "hgvs": [
        "NC_000023.11:g.47206011A=",
        "CM000685.2:g.47206011A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 47065410,
          "referenceAllele": "A",
          "start": 47065409
        }
      ],
      "hgvs": [
        "NC_000023.10:g.47065410A=",
        "CM000685.1:g.47065410A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 46950354,
          "referenceAllele": "A",
          "start": 46950353
        }
      ],
      "hgvs": [
        "NC_000023.9:g.46950354A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20212,
          "referenceAllele": "A",
          "start": 20211
        }
      ],
      "hgvs": [
        "NG_009161.1:g.20212A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001455"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6164,
          "referenceAllele": "A",
          "start": 6163
        }
      ],
      "hgvs": [
        "NG_021353.1:g.6164A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003592"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1835,
          "referenceAllele": "A",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012469",
      "geneNCBI_id": 7317,
      "geneSymbol": "UBA1",
      "hgvs": [
        "ENST00000335972.11:c.1639A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338413.6:p.Ser547="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747541",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335972.11:c.1639A="
          },
          "RefSeq": {
            "hgvs": "NM_003334.4:c.1639A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338413.6:p.Ser547="
          },
          "RefSeq": {
            "hgvs": "NP_003325.2:p.Ser547="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1822,
          "referenceAllele": "A",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012469",
      "geneNCBI_id": 7317,
      "geneSymbol": "UBA1",
      "hgvs": [
        "ENST00000335972.10:c.1639A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338413.6:p.Ser547="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1729,
          "referenceAllele": "A",
          "start": 1728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012469",
      "geneNCBI_id": 7317,
      "geneSymbol": "UBA1",
      "hgvs": [
        "ENST00000377351.8:c.1639A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366568.4:p.Ser547="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 464,
          "endIntronDirection": "-",
          "endIntronOffset": 66,
          "referenceAllele": "A",
          "start": 464,
          "startIntronDirection": "-",
          "startIntronOffset": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012469",
      "geneNCBI_id": 7317,
      "geneSymbol": "UBA1",
      "hgvs": [
        "ENST00000490869.1:n.465-67A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328597"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063194437",
      "coordinates": [
        {
          "allele": "A",
          "end": 1862,
          "referenceAllele": "A",
          "start": 1861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012469",
      "geneNCBI_id": 7317,
      "geneSymbol": "UBA1",
      "hgvs": [
        "NM_003334.3:c.1639A="
      ],
      "proteinEffect": {
        "hgvs": "NP_003325.2:p.Ser547="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028584"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1790,
          "referenceAllele": "A",
          "start": 1789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012469",
      "geneNCBI_id": 7317,
      "geneSymbol": "UBA1",
      "hgvs": [
        "NM_153280.2:c.1639A="
      ],
      "proteinEffect": {
        "hgvs": "NP_695012.1:p.Ser547="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042328"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2240,
          "referenceAllele": "A",
          "start": 2239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012469",
      "geneNCBI_id": 7317,
      "geneSymbol": "UBA1",
      "hgvs": [
        "XM_005272649.1:c.1657A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272706.1:p.Ser553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2276,
          "referenceAllele": "A",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012469",
      "geneNCBI_id": 7317,
      "geneSymbol": "UBA1",
      "hgvs": [
        "XM_005272650.1:c.1639A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272707.1:p.Ser547="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2323,
          "referenceAllele": "A",
          "start": 2322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012469",
      "geneNCBI_id": 7317,
      "geneSymbol": "UBA1",
      "hgvs": [
        "XM_011543953.1:c.1723A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542255.1:p.Ser575="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2209,
          "referenceAllele": "A",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012469",
      "geneNCBI_id": 7317,
      "geneSymbol": "UBA1",
      "hgvs": [
        "XM_011543954.1:c.1681A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542256.1:p.Ser561="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2237,
          "referenceAllele": "A",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012469",
      "geneNCBI_id": 7317,
      "geneSymbol": "UBA1",
      "hgvs": [
        "XM_011543955.1:c.1657A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542257.1:p.Ser553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1764,
          "referenceAllele": "A",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012469",
      "geneNCBI_id": 7317,
      "geneSymbol": "UBA1",
      "hgvs": [
        "XM_011543956.1:c.1639A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542258.1:p.Ser547="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 215,
          "endIntronDirection": "-",
          "endIntronOffset": 660,
          "referenceAllele": "T",
          "start": 215,
          "startIntronDirection": "-",
          "startIntronOffset": 661
        }
      ],
      "hgvs": [
        "XR_949047.1:n.216-661T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142625"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1882,
          "referenceAllele": "A",
          "start": 1881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012469",
      "geneNCBI_id": 7317,
      "geneSymbol": "UBA1",
      "hgvs": [
        "XM_011543954.2:c.1681A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542256.1:p.Ser561="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555443"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2957,
          "referenceAllele": "A",
          "start": 2956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012469",
      "geneNCBI_id": 7317,
      "geneSymbol": "UBA1",
      "hgvs": [
        "XM_017029777.1:c.1792A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016885266.1:p.Ser598="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4062,
          "referenceAllele": "A",
          "start": 4061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012469",
      "geneNCBI_id": 7317,
      "geneSymbol": "UBA1",
      "hgvs": [
        "XM_017029778.2:c.1723A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016885267.1:p.Ser575="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4570,
          "referenceAllele": "A",
          "start": 4569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012469",
      "geneNCBI_id": 7317,
      "geneSymbol": "UBA1",
      "hgvs": [
        "XM_017029779.2:c.1657A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016885268.1:p.Ser553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579274"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1747,
          "referenceAllele": "A",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012469",
      "geneNCBI_id": 7317,
      "geneSymbol": "UBA1",
      "hgvs": [
        "XM_017029780.1:c.1639A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016885269.1:p.Ser547="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1795,
          "referenceAllele": "A",
          "start": 1794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012469",
      "geneNCBI_id": 7317,
      "geneSymbol": "UBA1",
      "hgvs": [
        "XM_017029781.1:c.1639A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016885270.1:p.Ser547="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579276"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 283,
          "endIntronDirection": "-",
          "endIntronOffset": 660,
          "referenceAllele": "T",
          "start": 283,
          "startIntronDirection": "-",
          "startIntronOffset": 661
        }
      ],
      "hgvs": [
        "XR_949047.3:n.284-661T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063194437",
      "coordinates": [
        {
          "allele": "A",
          "end": 1835,
          "referenceAllele": "A",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012469",
      "geneNCBI_id": 7317,
      "geneSymbol": "UBA1",
      "hgvs": [
        "NM_003334.4:c.1639A="
      ],
      "proteinEffect": {
        "hgvs": "NP_003325.2:p.Ser547="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665994",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335972.11:c.1639A="
          },
          "RefSeq": {
            "hgvs": "NM_003334.4:c.1639A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338413.6:p.Ser547="
          },
          "RefSeq": {
            "hgvs": "NP_003325.2:p.Ser547="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1743,
          "referenceAllele": "A",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012469",
      "geneNCBI_id": 7317,
      "geneSymbol": "UBA1",
      "hgvs": [
        "NM_153280.3:c.1639A="
      ],
      "proteinEffect": {
        "hgvs": "NP_695012.1:p.Ser547="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700336"
    }
  ],
  "type": "nucleotide"
}