{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA320259",
  "communityStandardTitle": [
    "NM_020745.4(AARS2):c.221T>A (p.Phe74Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=211244[alleleid]",
        "alleleId": 211244,
        "preferredName": "NM_020745.4(AARS2):c.221T>A (p.Phe74Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/213966",
        "RCV": [
          "RCV000998616"
        ],
        "variationId": 213966
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-44280840-A-T",
        "id": "6-44280840-A-T",
        "variant": "6:44280840 A / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.44280840A>T?assembly=hg19",
        "id": "chr6:g.44280840A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.44313103A>T?assembly=hg38",
        "id": "chr6:g.44313103A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/757169781",
        "rs": 757169781
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-44280840-A-T?dataset=gnomad_r2_1",
        "id": "6-44280840-A-T",
        "variant": "6:44280840 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-44313103-A-T?dataset=gnomad_r3",
        "id": "6-44313103-A-T",
        "variant": "6:44313103 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-44313103-A-T?dataset=gnomad_r4",
        "id": "6-44313103-A-T",
        "variant": "6:44313103 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 44313103,
          "referenceAllele": "A",
          "start": 44313102
        }
      ],
      "hgvs": [
        "NC_000006.12:g.44313103A>T",
        "CM000668.2:g.44313103A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 44280840,
          "referenceAllele": "A",
          "start": 44280839
        }
      ],
      "hgvs": [
        "NC_000006.11:g.44280840A>T",
        "CM000668.1:g.44280840A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 44388818,
          "referenceAllele": "A",
          "start": 44388817
        }
      ],
      "hgvs": [
        "NC_000006.10:g.44388818A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5224,
          "referenceAllele": "T",
          "start": 5223
        }
      ],
      "hgvs": [
        "NG_031952.1:g.5224T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005048"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 245,
          "referenceAllele": "T",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021022",
      "geneNCBI_id": 57505,
      "geneSymbol": "AARS2",
      "hgvs": [
        "ENST00000244571.5:c.221T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000244571.4:p.Phe74Tyr",
        "hgvsWellDefined": "ENSP00000244571.4:p.Phe74Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741221",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000244571.5:c.221T>A"
          },
          "RefSeq": {
            "hgvs": "NM_020745.4:c.221T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000244571.4:p.Phe74Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_065796.2:p.Phe74Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 224,
          "referenceAllele": "T",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021022",
      "geneNCBI_id": 57505,
      "geneSymbol": "AARS2",
      "hgvs": [
        "ENST00000244571.4:c.221T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000244571.4:p.Phe74Tyr",
        "hgvsWellDefined": "ENSP00000244571.4:p.Phe74Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 855,
          "endIntronDirection": "+",
          "endIntronOffset": 5461,
          "referenceAllele": "A",
          "start": 855,
          "startIntronDirection": "+",
          "startIntronOffset": 5460
        }
      ],
      "hgvs": [
        "ENST00000505802.1:c.855+5461A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337496"
    },
    {
      "@id": "http://reg.genome.network/allele/PA320260",
      "coordinates": [
        {
          "allele": "A",
          "end": 224,
          "referenceAllele": "T",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021022",
      "geneNCBI_id": 57505,
      "geneSymbol": "AARS2",
      "hgvs": [
        "NM_020745.3:c.221T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065796.1:p.Phe74Tyr",
        "hgvsWellDefined": "NP_065796.1:p.Phe74Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
          "referenceAllele": "T",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021022",
      "geneNCBI_id": 57505,
      "geneSymbol": "AARS2",
      "hgvs": [
        "XM_005249245.2:c.221T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249302.1:p.Phe74Tyr",
        "hgvsWellDefined": "XP_005249302.1:p.Phe74Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
          "referenceAllele": "T",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021022",
      "geneNCBI_id": 57505,
      "geneSymbol": "AARS2",
      "hgvs": [
        "XM_011514764.1:c.221T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513066.1:p.Phe74Tyr",
        "hgvsWellDefined": "XP_011513066.1:p.Phe74Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
          "referenceAllele": "T",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021022",
      "geneNCBI_id": 57505,
      "geneSymbol": "AARS2",
      "hgvs": [
        "XR_241907.2:n.256T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116155"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
          "referenceAllele": "T",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021022",
      "geneNCBI_id": 57505,
      "geneSymbol": "AARS2",
      "hgvs": [
        "XM_005249245.3:c.221T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249302.1:p.Phe74Tyr",
        "hgvsWellDefined": "XP_005249302.1:p.Phe74Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533239"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
          "referenceAllele": "T",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021022",
      "geneNCBI_id": 57505,
      "geneSymbol": "AARS2",
      "hgvs": [
        "XM_011514764.2:c.221T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513066.1:p.Phe74Tyr",
        "hgvsWellDefined": "XP_011513066.1:p.Phe74Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 78,
          "referenceAllele": "T",
          "start": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021022",
      "geneNCBI_id": 57505,
      "geneSymbol": "AARS2",
      "hgvs": [
        "XM_017011112.1:c.-798T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866601.1:n.-798T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565029"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916049151",
      "coordinates": [
        {
          "allele": "A",
          "end": 245,
          "referenceAllele": "T",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021022",
      "geneNCBI_id": 57505,
      "geneSymbol": "AARS2",
      "hgvs": [
        "NM_020745.4:c.221T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065796.2:p.Phe74Tyr",
        "hgvsWellDefined": "NP_065796.2:p.Phe74Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000244571.5:c.221T>A"
          },
          "RefSeq": {
            "hgvs": "NM_020745.4:c.221T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000244571.4:p.Phe74Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_065796.2:p.Phe74Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 966,
          "endIntronDirection": "-",
          "endIntronOffset": 128786,
          "referenceAllele": "A",
          "start": 966,
          "startIntronDirection": "-",
          "startIntronOffset": 128787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "NM_001318876.2:c.946-128787A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305805.1:n.946-128787A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717620"
    }
  ],
  "type": "nucleotide"
}