{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA321124",
  "communityStandardTitle": [
    "NM_001040436.3(YARS2):c.374G>C (p.Arg125Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=211636[alleleid]",
        "alleleId": 211636,
        "preferredName": "NM_001040436.3(YARS2):c.374G>C (p.Arg125Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/215424",
        "RCV": [
          "RCV000196700"
        ],
        "variationId": 215424
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.32908435C>G?assembly=hg19",
        "id": "chr12:g.32908435C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.32755501C>G?assembly=hg38",
        "id": "chr12:g.32755501C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863224272",
        "rs": 863224272
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 32755501,
          "referenceAllele": "C",
          "start": 32755500
        }
      ],
      "hgvs": [
        "NC_000012.12:g.32755501C>G",
        "CM000674.2:g.32755501C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 32908435,
          "referenceAllele": "C",
          "start": 32908434
        }
      ],
      "hgvs": [
        "NC_000012.11:g.32908435C>G",
        "CM000674.1:g.32908435C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 32799702,
          "referenceAllele": "C",
          "start": 32799701
        }
      ],
      "hgvs": [
        "NC_000012.10:g.32799702C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5453,
          "referenceAllele": "G",
          "start": 5452
        }
      ],
      "hgvs": [
        "NG_028122.1:g.5453G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004083"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 397,
          "referenceAllele": "G",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024249",
      "geneNCBI_id": 51067,
      "geneSymbol": "YARS2",
      "hgvs": [
        "ENST00000324868.13:c.374G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320658.8:p.Arg125Pro",
        "hgvsWellDefined": "ENSP00000320658.8:p.Arg125Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746662",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324868.13:c.374G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001040436.3:c.374G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320658.8:p.Arg125Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001035526.1:p.Arg125Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024249",
      "geneNCBI_id": 51067,
      "geneSymbol": "YARS2",
      "hgvs": [
        "ENST00000324868.12:c.374G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320658.8:p.Arg125Pro",
        "hgvsWellDefined": "ENSP00000320658.8:p.Arg125Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 296,
          "referenceAllele": "G",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024249",
      "geneNCBI_id": 51067,
      "geneSymbol": "YARS2",
      "hgvs": [
        "ENST00000548490.1:c.296G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447710.1:p.Arg99Pro",
        "hgvsWellDefined": "ENSP00000447710.1:p.Arg99Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA321125",
      "coordinates": [
        {
          "allele": "C",
          "end": 453,
          "referenceAllele": "G",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024249",
      "geneNCBI_id": 51067,
      "geneSymbol": "YARS2",
      "hgvs": [
        "NM_001040436.2:c.374G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035526.1:p.Arg125Pro",
        "hgvsWellDefined": "NP_001035526.1:p.Arg125Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 461,
          "referenceAllele": "G",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024249",
      "geneNCBI_id": 51067,
      "geneSymbol": "YARS2",
      "hgvs": [
        "XR_242891.3:n.461G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116384"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 461,
          "referenceAllele": "G",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024249",
      "geneNCBI_id": 51067,
      "geneSymbol": "YARS2",
      "hgvs": [
        "XR_242892.3:n.461G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 461,
          "referenceAllele": "G",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024249",
      "geneNCBI_id": 51067,
      "geneSymbol": "YARS2",
      "hgvs": [
        "XR_429036.1:n.461G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118242"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 461,
          "referenceAllele": "G",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024249",
      "geneNCBI_id": 51067,
      "geneSymbol": "YARS2",
      "hgvs": [
        "XR_931296.1:n.461G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 461,
          "referenceAllele": "G",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024249",
      "geneNCBI_id": 51067,
      "geneSymbol": "YARS2",
      "hgvs": [
        "XR_931297.1:n.461G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 461,
          "referenceAllele": "G",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024249",
      "geneNCBI_id": 51067,
      "geneSymbol": "YARS2",
      "hgvs": [
        "XR_931298.1:n.461G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 461,
          "referenceAllele": "G",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024249",
      "geneNCBI_id": 51067,
      "geneSymbol": "YARS2",
      "hgvs": [
        "XR_931299.1:n.461G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127423"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "G",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024249",
      "geneNCBI_id": 51067,
      "geneSymbol": "YARS2",
      "hgvs": [
        "XR_001748730.2:n.958G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "G",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024249",
      "geneNCBI_id": 51067,
      "geneSymbol": "YARS2",
      "hgvs": [
        "XR_002957331.1:n.958G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603467"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "G",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024249",
      "geneNCBI_id": 51067,
      "geneSymbol": "YARS2",
      "hgvs": [
        "XR_242892.5:n.958G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "G",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024249",
      "geneNCBI_id": 51067,
      "geneSymbol": "YARS2",
      "hgvs": [
        "XR_931296.3:n.958G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609856"
    },
    {
      "@id": "http://reg.genome.network/allele/PA321125",
      "coordinates": [
        {
          "allele": "C",
          "end": 397,
          "referenceAllele": "G",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024249",
      "geneNCBI_id": 51067,
      "geneSymbol": "YARS2",
      "hgvs": [
        "NM_001040436.3:c.374G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035526.1:p.Arg125Pro",
        "hgvsWellDefined": "NP_001035526.1:p.Arg125Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675980",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324868.13:c.374G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001040436.3:c.374G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320658.8:p.Arg125Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001035526.1:p.Arg125Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}