{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1881281192",
  "communityStandardTitle": [
    "NM_054012.4(ASS1):c.1168G= (p.Gly390=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908641",
        "rs": 121908641
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 130499545,
          "referenceAllele": "G",
          "start": 130499544
        }
      ],
      "hgvs": [
        "NC_000009.12:g.130499545G=",
        "CM000671.2:g.130499545G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 133374932,
          "referenceAllele": "G",
          "start": 133374931
        }
      ],
      "hgvs": [
        "NC_000009.11:g.133374932G=",
        "CM000671.1:g.133374932G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 132364753,
          "referenceAllele": "G",
          "start": 132364752
        }
      ],
      "hgvs": [
        "NC_000009.10:g.132364753G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59839,
          "referenceAllele": "G",
          "start": 59838
        }
      ],
      "hgvs": [
        "NG_011542.1:g.59839G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001804"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1208,
          "referenceAllele": "G",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000352480.10:c.1168G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253004.6:p.Gly390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352480.10:c.1168G="
          },
          "RefSeq": {
            "hgvs": "NM_054012.4:c.1168G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253004.6:p.Gly390="
          },
          "RefSeq": {
            "hgvs": "NP_446464.1:p.Gly390="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1240,
          "referenceAllele": "G",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000352480.9:c.1168G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253004.6:p.Gly390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262873"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372386.6:n.439G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS269069"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1243,
          "referenceAllele": "G",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372393.7:c.1168G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361469.2:p.Gly390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269073"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1649,
          "referenceAllele": "G",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372394.5:c.1168G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361471.1:p.Gly390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269074"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825029909",
      "coordinates": [
        {
          "allele": "G",
          "end": 1524,
          "referenceAllele": "G",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_000050.4:c.1168G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000041.2:p.Gly390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830144082",
      "coordinates": [
        {
          "allele": "G",
          "end": 1462,
          "referenceAllele": "G",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_054012.3:c.1168G="
      ],
      "proteinEffect": {
        "hgvs": "NP_446464.1:p.Gly390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1267,
          "referenceAllele": "G",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_005272200.2:c.1168G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272257.1:p.Gly390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1408,
          "referenceAllele": "G",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_011518705.1:c.1282G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517007.1:p.Gly428="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085879"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1059,
          "endIntronDirection": "+",
          "endIntronOffset": 402,
          "referenceAllele": "C",
          "start": 1059,
          "startIntronDirection": "+",
          "startIntronOffset": 401
        }
      ],
      "hgvs": [
        "XR_930393.1:n.1059+402C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126522"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1267,
          "referenceAllele": "G",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_005272200.3:c.1168G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272257.1:p.Gly390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1408,
          "referenceAllele": "G",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_011518705.2:c.1282G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517007.1:p.Gly428="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545040"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1366,
          "referenceAllele": "G",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_017014729.1:c.1264G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016870218.1:p.Gly422="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567614"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1101,
          "endIntronDirection": "+",
          "endIntronOffset": 402,
          "referenceAllele": "C",
          "start": 1101,
          "startIntronDirection": "+",
          "startIntronOffset": 401
        }
      ],
      "hgvs": [
        "XR_930393.2:n.1101+402C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830144082",
      "coordinates": [
        {
          "allele": "G",
          "end": 1208,
          "referenceAllele": "G",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_054012.4:c.1168G="
      ],
      "proteinEffect": {
        "hgvs": "NP_446464.1:p.Gly390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352480.10:c.1168G="
          },
          "RefSeq": {
            "hgvs": "NM_054012.4:c.1168G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253004.6:p.Gly390="
          },
          "RefSeq": {
            "hgvs": "NP_446464.1:p.Gly390="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}