{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1881271948",
  "communityStandardTitle": [
    "NM_054012.4(ASS1):c.805G= (p.Val269=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370595480",
        "rs": 370595480
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 130480416,
          "referenceAllele": "G",
          "start": 130480415
        }
      ],
      "hgvs": [
        "NC_000009.12:g.130480416G=",
        "CM000671.2:g.130480416G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 133355803,
          "referenceAllele": "G",
          "start": 133355802
        }
      ],
      "hgvs": [
        "NC_000009.11:g.133355803G=",
        "CM000671.1:g.133355803G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 132345624,
          "referenceAllele": "G",
          "start": 132345623
        }
      ],
      "hgvs": [
        "NC_000009.10:g.132345624G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40710,
          "referenceAllele": "G",
          "start": 40709
        }
      ],
      "hgvs": [
        "NG_011542.1:g.40710G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001804"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 845,
          "referenceAllele": "G",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000352480.10:c.805G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253004.6:p.Val269="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352480.10:c.805G="
          },
          "RefSeq": {
            "hgvs": "NM_054012.4:c.805G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253004.6:p.Val269="
          },
          "RefSeq": {
            "hgvs": "NP_446464.1:p.Val269="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 877,
          "referenceAllele": "G",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000352480.9:c.805G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253004.6:p.Val269="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262873"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 76,
          "referenceAllele": "G",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372386.6:n.76G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS269069"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 880,
          "referenceAllele": "G",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372393.7:c.805G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361469.2:p.Val269="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269073"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1286,
          "referenceAllele": "G",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372394.5:c.805G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361471.1:p.Val269="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 530,
          "referenceAllele": "G",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000470849.4:n.530G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 314,
          "referenceAllele": "G",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000492400.5:n.314G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329789"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 582,
          "referenceAllele": "G",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000493984.6:n.582G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331021"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825029676",
      "coordinates": [
        {
          "allele": "G",
          "end": 1161,
          "referenceAllele": "G",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_000050.4:c.805G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000041.2:p.Val269="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830144032",
      "coordinates": [
        {
          "allele": "G",
          "end": 1099,
          "referenceAllele": "G",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_054012.3:c.805G="
      ],
      "proteinEffect": {
        "hgvs": "NP_446464.1:p.Val269="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 904,
          "referenceAllele": "G",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_005272200.2:c.805G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272257.1:p.Val269="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1045,
          "referenceAllele": "G",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_011518705.1:c.919G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517007.1:p.Val307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085879"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 904,
          "referenceAllele": "G",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_005272200.3:c.805G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272257.1:p.Val269="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1045,
          "referenceAllele": "G",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_011518705.2:c.919G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517007.1:p.Val307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545040"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1003,
          "referenceAllele": "G",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_017014729.1:c.901G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016870218.1:p.Val301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830144032",
      "coordinates": [
        {
          "allele": "G",
          "end": 845,
          "referenceAllele": "G",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_054012.4:c.805G="
      ],
      "proteinEffect": {
        "hgvs": "NP_446464.1:p.Val269="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352480.10:c.805G="
          },
          "RefSeq": {
            "hgvs": "NM_054012.4:c.805G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253004.6:p.Val269="
          },
          "RefSeq": {
            "hgvs": "NP_446464.1:p.Val269="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}