{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14873277",
  "communityStandardTitle": [
    "NC_000021.9:g.41426138G>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.42798065G>T?assembly=hg19",
        "id": "chr21:g.42798065G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.41426138G>T?assembly=hg38",
        "id": "chr21:g.41426138G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2071430",
        "rs": 2071430
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-42798065-G-T?dataset=gnomad_r2_1",
        "id": "21-42798065-G-T",
        "variant": "21:42798065 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-41426138-G-T?dataset=gnomad_r3",
        "id": "21-41426138-G-T",
        "variant": "21:41426138 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-41426138-G-T?dataset=gnomad_r4",
        "id": "21-41426138-G-T",
        "variant": "21:41426138 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 41426138,
          "referenceAllele": "G",
          "start": 41426137
        }
      ],
      "hgvs": [
        "NC_000021.9:g.41426138G>T",
        "CM000683.2:g.41426138G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 42798065,
          "referenceAllele": "G",
          "start": 42798064
        }
      ],
      "hgvs": [
        "NC_000021.8:g.42798065G>T",
        "CM000683.1:g.42798065G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 41719935,
          "referenceAllele": "G",
          "start": 41719934
        }
      ],
      "hgvs": [
        "NC_000021.7:g.41719935G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10546,
          "referenceAllele": "G",
          "start": 10545
        }
      ],
      "hgvs": [
        "NG_027788.1:g.10546G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10546,
          "referenceAllele": "G",
          "start": 10545
        }
      ],
      "hgvs": [
        "NG_027788.2:g.10546G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673747"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 356,
          "endIntronDirection": "-",
          "endIntronOffset": 1067,
          "referenceAllele": "G",
          "start": 356,
          "startIntronDirection": "-",
          "startIntronOffset": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "ENST00000413778.6:c.-327-1068G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408498.2:n.-327-1068G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 317,
          "referenceAllele": "G",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "ENST00000419044.6:c.-332G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392151.2:n.-332G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 472,
          "endIntronDirection": "-",
          "endIntronOffset": 1067,
          "referenceAllele": "G",
          "start": 472,
          "startIntronDirection": "-",
          "startIntronOffset": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "ENST00000486275.2:n.473-1068G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 400,
          "endIntronDirection": "-",
          "endIntronOffset": 1067,
          "referenceAllele": "G",
          "start": 400,
          "startIntronDirection": "-",
          "startIntronOffset": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "ENST00000679445.1:c.-308-1068G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505630.1:n.-308-1068G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779076"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 576,
          "endIntronDirection": "-",
          "endIntronOffset": 1616,
          "referenceAllele": "G",
          "start": 576,
          "startIntronDirection": "-",
          "startIntronOffset": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "ENST00000679464.1:c.-209-1617G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505874.1:n.-209-1617G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "endIntronDirection": "-",
          "endIntronOffset": 1616,
          "referenceAllele": "G",
          "start": 622,
          "startIntronDirection": "-",
          "startIntronOffset": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "ENST00000679626.1:c.-209-1617G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506481.1:n.-209-1617G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38,
          "referenceAllele": "G",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "ENST00000679705.1:c.-351G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506372.1:n.-351G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "endIntronDirection": "-",
          "endIntronOffset": 1067,
          "referenceAllele": "G",
          "start": 514,
          "startIntronDirection": "-",
          "startIntronOffset": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "ENST00000679911.1:c.-308-1068G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505189.1:n.-308-1068G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 473,
          "endIntronDirection": "-",
          "endIntronOffset": 1067,
          "referenceAllele": "G",
          "start": 473,
          "startIntronDirection": "-",
          "startIntronOffset": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "ENST00000680182.1:c.-308-1068G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506395.1:n.-308-1068G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779802"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 377,
          "endIntronDirection": "-",
          "endIntronOffset": 1067,
          "referenceAllele": "G",
          "start": 377,
          "startIntronDirection": "-",
          "startIntronOffset": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "ENST00000680347.1:c.-308-1068G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506183.1:n.-308-1068G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 464,
          "endIntronDirection": "-",
          "endIntronOffset": 1067,
          "referenceAllele": "G",
          "start": 464,
          "startIntronDirection": "-",
          "startIntronOffset": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "ENST00000681191.1:c.-308-1068G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505657.1:n.-308-1068G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780802"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 576,
          "endIntronDirection": "-",
          "endIntronOffset": 1067,
          "referenceAllele": "G",
          "start": 576,
          "startIntronDirection": "-",
          "startIntronOffset": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "ENST00000681415.1:c.-308-1068G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506062.1:n.-308-1068G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 49,
          "referenceAllele": "G",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "ENST00000681849.1:c.-335G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505051.1:n.-335G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 411,
          "endIntronDirection": "-",
          "endIntronOffset": 1616,
          "referenceAllele": "G",
          "start": 411,
          "startIntronDirection": "-",
          "startIntronOffset": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "ENST00000681857.1:c.-209-1617G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505669.1:n.-209-1617G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "endIntronDirection": "-",
          "endIntronOffset": 1067,
          "referenceAllele": "G",
          "start": 332,
          "startIntronDirection": "-",
          "startIntronOffset": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "ENST00000681867.1:c.-327-1068G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506690.1:n.-327-1068G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781469"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 717,
          "endIntronDirection": "-",
          "endIntronOffset": 1067,
          "referenceAllele": "G",
          "start": 717,
          "startIntronDirection": "-",
          "startIntronOffset": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "ENST00000398600.6:c.-308-1068G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381601.2:n.-308-1068G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 356,
          "endIntronDirection": "-",
          "endIntronOffset": 1067,
          "referenceAllele": "G",
          "start": 356,
          "startIntronDirection": "-",
          "startIntronOffset": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "ENST00000413778.5:c.-327-1068G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408498.1:n.-327-1068G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 108,
          "referenceAllele": "G",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "ENST00000419044.5:c.-332G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392151.1:n.-332G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 108,
          "referenceAllele": "G",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "ENST00000455164.6:c.-259G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410523.2:n.-259G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 551,
          "endIntronDirection": "-",
          "endIntronOffset": 1067,
          "referenceAllele": "G",
          "start": 551,
          "startIntronDirection": "-",
          "startIntronOffset": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "ENST00000490220.5:n.552-1068G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 674,
          "endIntronDirection": "-",
          "endIntronOffset": 1067,
          "referenceAllele": "G",
          "start": 674,
          "startIntronDirection": "-",
          "startIntronOffset": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "NM_001144925.2:c.-308-1068G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138397.1:n.-308-1068G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 108,
          "referenceAllele": "G",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "NM_001178046.2:c.-259G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171517.1:n.-259G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 108,
          "referenceAllele": "G",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "NM_002462.4:c.-434G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002453.2:n.-434G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 319,
          "referenceAllele": "G",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "XM_005260979.1:c.-332G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261036.1:n.-332G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062997"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "endIntronDirection": "-",
          "endIntronOffset": 1067,
          "referenceAllele": "G",
          "start": 683,
          "startIntronDirection": "-",
          "startIntronOffset": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "XM_011529568.1:c.-308-1068G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527870.1:n.-308-1068G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096637"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 319,
          "referenceAllele": "G",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "XM_005260979.2:c.-332G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261036.1:n.-332G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535268"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "endIntronDirection": "-",
          "endIntronOffset": 1067,
          "referenceAllele": "G",
          "start": 683,
          "startIntronDirection": "-",
          "startIntronOffset": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "XM_011529568.2:c.-308-1068G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527870.1:n.-308-1068G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 639,
          "endIntronDirection": "-",
          "endIntronOffset": 1067,
          "referenceAllele": "G",
          "start": 639,
          "startIntronDirection": "-",
          "startIntronOffset": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "XM_017028349.2:c.-327-1068G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883838.1:n.-327-1068G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 319,
          "referenceAllele": "G",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "XM_017028350.1:c.-351G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883839.1:n.-351G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6,
          "referenceAllele": "G",
          "start": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007532",
      "geneNCBI_id": 4599,
      "geneSymbol": "MX1",
      "hgvs": [
        "XM_017028351.2:c.-434G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883840.1:n.-434G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578114"
    }
  ],
  "type": "nucleotide"
}