{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1881281176",
  "communityStandardTitle": [
    "NM_054012.4(ASS1):c.1138C= (p.Gln380=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786204460",
        "rs": 786204460
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 130499515,
          "referenceAllele": "C",
          "start": 130499514
        }
      ],
      "hgvs": [
        "NC_000009.12:g.130499515C=",
        "CM000671.2:g.130499515C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 133374902,
          "referenceAllele": "C",
          "start": 133374901
        }
      ],
      "hgvs": [
        "NC_000009.11:g.133374902C=",
        "CM000671.1:g.133374902C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 132364723,
          "referenceAllele": "C",
          "start": 132364722
        }
      ],
      "hgvs": [
        "NC_000009.10:g.132364723C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59809,
          "referenceAllele": "C",
          "start": 59808
        }
      ],
      "hgvs": [
        "NG_011542.1:g.59809C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001804"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1178,
          "referenceAllele": "C",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000352480.10:c.1138C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253004.6:p.Gln380="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352480.10:c.1138C="
          },
          "RefSeq": {
            "hgvs": "NM_054012.4:c.1138C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253004.6:p.Gln380="
          },
          "RefSeq": {
            "hgvs": "NP_446464.1:p.Gln380="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1210,
          "referenceAllele": "C",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000352480.9:c.1138C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253004.6:p.Gln380="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 409,
          "referenceAllele": "C",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372386.6:n.409C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS269069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1213,
          "referenceAllele": "C",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372393.7:c.1138C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361469.2:p.Gln380="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269073"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1619,
          "referenceAllele": "C",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372394.5:c.1138C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361471.1:p.Gln380="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269074"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075752043",
      "coordinates": [
        {
          "allele": "C",
          "end": 1494,
          "referenceAllele": "C",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_000050.4:c.1138C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000041.2:p.Gln380="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1432,
          "referenceAllele": "C",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_054012.3:c.1138C="
      ],
      "proteinEffect": {
        "hgvs": "NP_446464.1:p.Gln380="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1237,
          "referenceAllele": "C",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_005272200.2:c.1138C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272257.1:p.Gln380="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1378,
          "referenceAllele": "C",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_011518705.1:c.1252C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517007.1:p.Gln418="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085879"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1059,
          "endIntronDirection": "+",
          "endIntronOffset": 432,
          "referenceAllele": "G",
          "start": 1059,
          "startIntronDirection": "+",
          "startIntronOffset": 431
        }
      ],
      "hgvs": [
        "XR_930393.1:n.1059+432G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126522"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1237,
          "referenceAllele": "C",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_005272200.3:c.1138C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272257.1:p.Gln380="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1378,
          "referenceAllele": "C",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_011518705.2:c.1252C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517007.1:p.Gln418="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545040"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1336,
          "referenceAllele": "C",
          "start": 1335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_017014729.1:c.1234C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016870218.1:p.Gln412="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567614"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1101,
          "endIntronDirection": "+",
          "endIntronOffset": 432,
          "referenceAllele": "G",
          "start": 1101,
          "startIntronDirection": "+",
          "startIntronOffset": 431
        }
      ],
      "hgvs": [
        "XR_930393.2:n.1101+432G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609520"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1178,
          "referenceAllele": "C",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_054012.4:c.1138C="
      ],
      "proteinEffect": {
        "hgvs": "NP_446464.1:p.Gln380="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352480.10:c.1138C="
          },
          "RefSeq": {
            "hgvs": "NM_054012.4:c.1138C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253004.6:p.Gln380="
          },
          "RefSeq": {
            "hgvs": "NP_446464.1:p.Gln380="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}