{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1881271970",
  "communityStandardTitle": [
    "NM_054012.4(ASS1):c.814C= (p.Arg272=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/762387914",
        "rs": 762387914
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 130480425,
          "referenceAllele": "C",
          "start": 130480424
        }
      ],
      "hgvs": [
        "NC_000009.12:g.130480425C=",
        "CM000671.2:g.130480425C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 133355812,
          "referenceAllele": "C",
          "start": 133355811
        }
      ],
      "hgvs": [
        "NC_000009.11:g.133355812C=",
        "CM000671.1:g.133355812C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 132345633,
          "referenceAllele": "C",
          "start": 132345632
        }
      ],
      "hgvs": [
        "NC_000009.10:g.132345633C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 40719,
          "referenceAllele": "C",
          "start": 40718
        }
      ],
      "hgvs": [
        "NG_011542.1:g.40719C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001804"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 854,
          "referenceAllele": "C",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000352480.10:c.814C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253004.6:p.Arg272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352480.10:c.814C="
          },
          "RefSeq": {
            "hgvs": "NM_054012.4:c.814C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253004.6:p.Arg272="
          },
          "RefSeq": {
            "hgvs": "NP_446464.1:p.Arg272="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 886,
          "referenceAllele": "C",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000352480.9:c.814C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253004.6:p.Arg272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 85,
          "referenceAllele": "C",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372386.6:n.85C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS269069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 889,
          "referenceAllele": "C",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372393.7:c.814C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361469.2:p.Arg272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269073"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1295,
          "referenceAllele": "C",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372394.5:c.814C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361471.1:p.Arg272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 539,
          "referenceAllele": "C",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000470849.4:n.539C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313183"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 323,
          "referenceAllele": "C",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000492400.5:n.323C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329789"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 591,
          "referenceAllele": "C",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000493984.6:n.591C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331021"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075858868",
      "coordinates": [
        {
          "allele": "C",
          "end": 1170,
          "referenceAllele": "C",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_000050.4:c.814C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000041.2:p.Arg272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_054012.3:c.814C="
      ],
      "proteinEffect": {
        "hgvs": "NP_446464.1:p.Arg272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 913,
          "referenceAllele": "C",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_005272200.2:c.814C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272257.1:p.Arg272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1054,
          "referenceAllele": "C",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_011518705.1:c.928C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517007.1:p.Arg310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085879"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 913,
          "referenceAllele": "C",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_005272200.3:c.814C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272257.1:p.Arg272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1054,
          "referenceAllele": "C",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_011518705.2:c.928C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517007.1:p.Arg310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545040"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_017014729.1:c.910C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016870218.1:p.Arg304="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567614"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 854,
          "referenceAllele": "C",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_054012.4:c.814C="
      ],
      "proteinEffect": {
        "hgvs": "NP_446464.1:p.Arg272="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352480.10:c.814C="
          },
          "RefSeq": {
            "hgvs": "NM_054012.4:c.814C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253004.6:p.Arg272="
          },
          "RefSeq": {
            "hgvs": "NP_446464.1:p.Arg272="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}