{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1881256230",
  "communityStandardTitle": [
    "NM_054012.4(ASS1):c.567-1G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517259",
        "rs": 1057517259
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 130471484,
          "referenceAllele": "G",
          "start": 130471483
        }
      ],
      "hgvs": [
        "NC_000009.12:g.130471484G=",
        "CM000671.2:g.130471484G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 133346871,
          "referenceAllele": "G",
          "start": 133346870
        }
      ],
      "hgvs": [
        "NC_000009.11:g.133346871G=",
        "CM000671.1:g.133346871G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 132336692,
          "referenceAllele": "G",
          "start": 132336691
        }
      ],
      "hgvs": [
        "NC_000009.10:g.132336692G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31778,
          "referenceAllele": "G",
          "start": 31777
        }
      ],
      "hgvs": [
        "NG_011542.1:g.31778G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001804"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 606,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 606,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000352480.10:c.567-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253004.6:n.567-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352480.10:c.567-1G="
          },
          "RefSeq": {
            "hgvs": "NM_054012.4:c.567-1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253004.6:n.567-1G="
          },
          "RefSeq": {
            "hgvs": "NP_446464.1:n.567-1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 638,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 638,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000352480.9:c.567-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253004.6:n.567-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262873"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 641,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 641,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372393.7:c.567-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361469.2:n.567-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269073"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1047,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1047,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372394.5:c.567-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361471.1:n.567-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 778,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 778,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000422569.5:c.567-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394212.1:n.567-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 515,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 515,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000443588.1:c.510-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397785.1:n.510-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297414"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 275,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 275,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000467695.5:n.276-1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 397,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 397,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000493984.6:n.398-1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 922,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 922,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_000050.4:c.567-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000041.2:n.567-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 860,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 860,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_054012.3:c.567-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_446464.1:n.567-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 665,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 665,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_005272200.2:c.567-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272257.1:n.567-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 806,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_011518705.1:c.681-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517007.1:n.681-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085879"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 665,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 665,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_005272200.3:c.567-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272257.1:n.567-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 806,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_011518705.2:c.681-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517007.1:n.681-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545040"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 764,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 764,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_017014729.1:c.663-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016870218.1:n.663-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567614"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 606,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 606,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_054012.4:c.567-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_446464.1:n.567-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352480.10:c.567-1G="
          },
          "RefSeq": {
            "hgvs": "NM_054012.4:c.567-1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253004.6:n.567-1G="
          },
          "RefSeq": {
            "hgvs": "NP_446464.1:n.567-1G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}