{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1881276655",
  "communityStandardTitle": [
    "NM_054012.4(ASS1):c.928A= (p.Lys310=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908648",
        "rs": 121908648
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 130489422,
          "referenceAllele": "A",
          "start": 130489421
        }
      ],
      "hgvs": [
        "NC_000009.12:g.130489422A=",
        "CM000671.2:g.130489422A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 133364809,
          "referenceAllele": "A",
          "start": 133364808
        }
      ],
      "hgvs": [
        "NC_000009.11:g.133364809A=",
        "CM000671.1:g.133364809A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 132354630,
          "referenceAllele": "A",
          "start": 132354629
        }
      ],
      "hgvs": [
        "NC_000009.10:g.132354630A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 49716,
          "referenceAllele": "A",
          "start": 49715
        }
      ],
      "hgvs": [
        "NG_011542.1:g.49716A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001804"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 968,
          "referenceAllele": "A",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000352480.10:c.928A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253004.6:p.Lys310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352480.10:c.928A="
          },
          "RefSeq": {
            "hgvs": "NM_054012.4:c.928A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253004.6:p.Lys310="
          },
          "RefSeq": {
            "hgvs": "NP_446464.1:p.Lys310="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1000,
          "referenceAllele": "A",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000352480.9:c.928A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253004.6:p.Lys310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 199,
          "referenceAllele": "A",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372386.6:n.199A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS269069"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1003,
          "referenceAllele": "A",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372393.7:c.928A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361469.2:p.Lys310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269073"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1409,
          "referenceAllele": "A",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372394.5:c.928A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361471.1:p.Lys310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269074"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 437,
          "referenceAllele": "A",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000492400.5:n.437A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825029757",
      "coordinates": [
        {
          "allele": "A",
          "end": 1284,
          "referenceAllele": "A",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_000050.4:c.928A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000041.2:p.Lys310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830144045",
      "coordinates": [
        {
          "allele": "A",
          "end": 1222,
          "referenceAllele": "A",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_054012.3:c.928A="
      ],
      "proteinEffect": {
        "hgvs": "NP_446464.1:p.Lys310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1027,
          "referenceAllele": "A",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_005272200.2:c.928A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272257.1:p.Lys310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1168,
          "referenceAllele": "A",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_011518705.1:c.1042A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517007.1:p.Lys348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1027,
          "referenceAllele": "A",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_005272200.3:c.928A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272257.1:p.Lys310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1168,
          "referenceAllele": "A",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_011518705.2:c.1042A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517007.1:p.Lys348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1126,
          "referenceAllele": "A",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_017014729.1:c.1024A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016870218.1:p.Lys342="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830144045",
      "coordinates": [
        {
          "allele": "A",
          "end": 968,
          "referenceAllele": "A",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_054012.4:c.928A="
      ],
      "proteinEffect": {
        "hgvs": "NP_446464.1:p.Lys310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352480.10:c.928A="
          },
          "RefSeq": {
            "hgvs": "NM_054012.4:c.928A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253004.6:p.Lys310="
          },
          "RefSeq": {
            "hgvs": "NP_446464.1:p.Lys310="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}