{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1624929540",
  "communityStandardTitle": [
    "NM_020745.4(AARS2):c.1213G= (p.Glu405=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777592",
        "rs": 587777592
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 44306367,
          "referenceAllele": "C",
          "start": 44306366
        }
      ],
      "hgvs": [
        "NC_000006.12:g.44306367C=",
        "CM000668.2:g.44306367C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 44274104,
          "referenceAllele": "C",
          "start": 44274103
        }
      ],
      "hgvs": [
        "NC_000006.11:g.44274104C=",
        "CM000668.1:g.44274104C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 44382082,
          "referenceAllele": "C",
          "start": 44382081
        }
      ],
      "hgvs": [
        "NC_000006.10:g.44382082C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11960,
          "referenceAllele": "G",
          "start": 11959
        }
      ],
      "hgvs": [
        "NG_031952.1:g.11960G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005048"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1237,
          "referenceAllele": "G",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021022",
      "geneNCBI_id": 57505,
      "geneSymbol": "AARS2",
      "hgvs": [
        "ENST00000244571.5:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000244571.4:p.Glu405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741221",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000244571.5:c.1213G="
          },
          "RefSeq": {
            "hgvs": "NM_020745.4:c.1213G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000244571.4:p.Glu405="
          },
          "RefSeq": {
            "hgvs": "NP_065796.2:p.Glu405="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1216,
          "referenceAllele": "G",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021022",
      "geneNCBI_id": 57505,
      "geneSymbol": "AARS2",
      "hgvs": [
        "ENST00000244571.4:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000244571.4:p.Glu405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 576,
          "endIntronDirection": "-",
          "endIntronOffset": 575,
          "referenceAllele": "C",
          "start": 576,
          "startIntronDirection": "-",
          "startIntronOffset": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021315",
      "geneNCBI_id": 441151,
      "geneSymbol": "TMEM151B",
      "hgvs": [
        "ENST00000438774.2:c.577-576C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409337.2:n.577-576C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295101"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 313,
          "endIntronDirection": "-",
          "endIntronOffset": 575,
          "referenceAllele": "C",
          "start": 313,
          "startIntronDirection": "-",
          "startIntronOffset": 576
        }
      ],
      "hgvs": [
        "ENST00000505802.1:c.314-576C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1216,
          "referenceAllele": "G",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021022",
      "geneNCBI_id": 57505,
      "geneSymbol": "AARS2",
      "hgvs": [
        "NM_020745.3:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "NP_065796.1:p.Glu405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036548"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 957,
          "referenceAllele": "G",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021022",
      "geneNCBI_id": 57505,
      "geneSymbol": "AARS2",
      "hgvs": [
        "XM_005249245.2:c.922G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005249302.1:p.Glu308="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058766"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1248,
          "referenceAllele": "G",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021022",
      "geneNCBI_id": 57505,
      "geneSymbol": "AARS2",
      "hgvs": [
        "XM_011514764.1:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513066.1:p.Glu405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1248,
          "referenceAllele": "G",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021022",
      "geneNCBI_id": 57505,
      "geneSymbol": "AARS2",
      "hgvs": [
        "XR_241907.2:n.1248G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116155"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 957,
          "referenceAllele": "G",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021022",
      "geneNCBI_id": 57505,
      "geneSymbol": "AARS2",
      "hgvs": [
        "XM_005249245.3:c.922G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005249302.1:p.Glu308="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533239"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1248,
          "referenceAllele": "G",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021022",
      "geneNCBI_id": 57505,
      "geneSymbol": "AARS2",
      "hgvs": [
        "XM_011514764.2:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513066.1:p.Glu405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543458"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 798,
          "referenceAllele": "G",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021022",
      "geneNCBI_id": 57505,
      "geneSymbol": "AARS2",
      "hgvs": [
        "XM_017011112.1:c.-78G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016866601.1:n.-78G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565029"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072290482",
      "coordinates": [
        {
          "allele": "G",
          "end": 1237,
          "referenceAllele": "G",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021022",
      "geneNCBI_id": 57505,
      "geneSymbol": "AARS2",
      "hgvs": [
        "NM_020745.4:c.1213G="
      ],
      "proteinEffect": {
        "hgvs": "NP_065796.2:p.Glu405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000244571.5:c.1213G="
          },
          "RefSeq": {
            "hgvs": "NM_020745.4:c.1213G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000244571.4:p.Glu405="
          },
          "RefSeq": {
            "hgvs": "NP_065796.2:p.Glu405="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 966,
          "endIntronDirection": "-",
          "endIntronOffset": 135522,
          "referenceAllele": "C",
          "start": 966,
          "startIntronDirection": "-",
          "startIntronOffset": 135523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "NM_001318876.2:c.946-135523C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305805.1:n.946-135523C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717620"
    }
  ],
  "type": "nucleotide"
}