{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2230677495",
  "communityStandardTitle": [
    "NM_001605.3(AARS1):c.242A= (p.Lys81=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786205157",
        "rs": 786205157
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 70277057,
          "referenceAllele": "T",
          "start": 70277056
        }
      ],
      "hgvs": [
        "NC_000016.10:g.70277057T=",
        "CM000678.2:g.70277057T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 70310960,
          "referenceAllele": "T",
          "start": 70310959
        }
      ],
      "hgvs": [
        "NC_000016.9:g.70310960T=",
        "CM000678.1:g.70310960T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 68868461,
          "referenceAllele": "T",
          "start": 68868460
        }
      ],
      "hgvs": [
        "NC_000016.8:g.68868461T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17453,
          "referenceAllele": "A",
          "start": 17452
        }
      ],
      "hgvs": [
        "NG_023191.1:g.17453A=",
        "LRG_359:g.17453A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003704"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 349,
          "referenceAllele": "A",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000261772.13:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261772.8:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742207",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261772.13:c.242A="
          },
          "RefSeq": {
            "hgvs": "NM_001605.3:c.242A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261772.8:p.Lys81="
          },
          "RefSeq": {
            "hgvs": "NP_001596.2:p.Lys81="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "referenceAllele": "A",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000564359.6:n.400A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760428"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "referenceAllele": "A",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000565361.3:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455360.3:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760465"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 398,
          "referenceAllele": "A",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000674512.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501613.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774469"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 289,
          "referenceAllele": "A",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000674652.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502620.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774589"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 378,
          "referenceAllele": "A",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000674691.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502247.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 398,
          "referenceAllele": "A",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000674768.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501679.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 398,
          "referenceAllele": "A",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000674811.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502055.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 291,
          "referenceAllele": "A",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000674848.1:n.291A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "referenceAllele": "A",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000674962.1:n.400A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774844"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "referenceAllele": "A",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000674963.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501924.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "referenceAllele": "A",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000675035.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502712.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774911"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "referenceAllele": "A",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000675045.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502014.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 398,
          "referenceAllele": "A",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000675120.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502823.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 398,
          "referenceAllele": "A",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000675133.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502230.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "referenceAllele": "A",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000675270.1:n.522A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 398,
          "referenceAllele": "A",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000675297.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502753.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 398,
          "referenceAllele": "A",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000675338.1:n.398A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "referenceAllele": "A",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000675371.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502645.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775201"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "referenceAllele": "A",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000675403.1:n.400A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 291,
          "referenceAllele": "A",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000675569.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502534.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775369"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 365,
          "referenceAllele": "A",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000675643.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502797.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 390,
          "referenceAllele": "A",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000675691.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502196.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775477"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 390,
          "referenceAllele": "A",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000675751.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502277.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "referenceAllele": "A",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000675853.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502367.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775619"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 539,
          "referenceAllele": "A",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000675917.1:n.539A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 390,
          "referenceAllele": "A",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000675953.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502321.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775703"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "referenceAllele": "A",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000675986.1:n.400A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775731"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 521,
          "referenceAllele": "A",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000676004.1:c.*241A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502765.1:n.*241A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 390,
          "referenceAllele": "A",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000676040.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502108.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775778"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "referenceAllele": "A",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000676168.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502479.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 398,
          "referenceAllele": "A",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000676209.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502052.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 390,
          "referenceAllele": "A",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000676211.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502726.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "referenceAllele": "A",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000676212.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501853.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 422,
          "referenceAllele": "A",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000676247.1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502699.1:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 386,
          "referenceAllele": "A",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "ENST00000261772.12:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261772.7:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083220182",
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "referenceAllele": "A",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "NM_001605.2:c.242A=",
        "LRG_359t1:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001596.2:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026946"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 393,
          "referenceAllele": "A",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "XR_933220.1:n.393A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128934"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "referenceAllele": "A",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "XR_933220.3:n.352A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083220182",
      "coordinates": [
        {
          "allele": "A",
          "end": 349,
          "referenceAllele": "A",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000020",
      "geneNCBI_id": 16,
      "geneSymbol": "AARS1",
      "hgvs": [
        "NM_001605.3:c.242A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001596.2:p.Lys81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261772.13:c.242A="
          },
          "RefSeq": {
            "hgvs": "NM_001605.3:c.242A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261772.8:p.Lys81="
          },
          "RefSeq": {
            "hgvs": "NP_001596.2:p.Lys81="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}