{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8203155",
  "communityStandardTitle": [
    "NM_178452.6(DNAAF1):c.2070G>A (p.Pro690=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=336300[alleleid]",
        "alleleId": 336300,
        "preferredName": "NM_178452.6(DNAAF1):c.2070G>A (p.Pro690=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/320781",
        "RCV": [
          "RCV000373165",
          "RCV002418172"
        ],
        "variationId": 320781
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-84211339-G-A",
        "id": "16-84211339-G-A",
        "variant": "16:84211339 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.84211339G>A?assembly=hg19",
        "id": "chr16:g.84211339G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.84177733G>A?assembly=hg38",
        "id": "chr16:g.84177733G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/772036783",
        "rs": 772036783
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-84211339-G-A?dataset=gnomad_r2_1",
        "id": "16-84211339-G-A",
        "variant": "16:84211339 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-84177733-G-A?dataset=gnomad_r3",
        "id": "16-84177733-G-A",
        "variant": "16:84177733 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-84177733-G-A?dataset=gnomad_r4",
        "id": "16-84177733-G-A",
        "variant": "16:84177733 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 84177733,
          "referenceAllele": "G",
          "start": 84177732
        }
      ],
      "hgvs": [
        "NC_000016.10:g.84177733G>A",
        "CM000678.2:g.84177733G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 84211339,
          "referenceAllele": "G",
          "start": 84211338
        }
      ],
      "hgvs": [
        "NC_000016.9:g.84211339G>A",
        "CM000678.1:g.84211339G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 82768840,
          "referenceAllele": "G",
          "start": 82768839
        }
      ],
      "hgvs": [
        "NC_000016.8:g.82768840G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 37475,
          "referenceAllele": "G",
          "start": 37474
        }
      ],
      "hgvs": [
        "NG_021174.1:g.37475G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003453"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2203,
          "referenceAllele": "G",
          "start": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "ENST00000378553.10:c.2070G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367815.5:p.Pro690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752101",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378553.10:c.2070G>A"
          },
          "RefSeq": {
            "hgvs": "NM_178452.6:c.2070G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367815.5:p.Pro690="
          },
          "RefSeq": {
            "hgvs": "NP_848547.4:p.Pro690="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2194,
          "referenceAllele": "G",
          "start": 2193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "ENST00000378553.9:c.2070G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367815.5:p.Pro690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 542,
          "referenceAllele": "G",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "ENST00000562024.1:n.542G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376507"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1747,
          "referenceAllele": "G",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "ENST00000563818.5:n.1747G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377668"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 159,
          "endIntronDirection": "-",
          "endIntronOffset": 656,
          "referenceAllele": "G",
          "start": 159,
          "startIntronDirection": "-",
          "startIntronOffset": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "ENST00000564928.1:c.160-657G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378427"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 465,
          "referenceAllele": "G",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "ENST00000569735.1:c.465G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454960.1:p.Pro155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4523,
          "referenceAllele": "G",
          "start": 4522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "ENST00000570298.5:n.4523G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2506,
          "referenceAllele": "G",
          "start": 2505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "ENST00000623406.1:n.2506G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406072"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830378286",
      "coordinates": [
        {
          "allele": "A",
          "end": 2251,
          "referenceAllele": "G",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "NM_178452.4:c.2070G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_848547.4:p.Pro690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2256,
          "referenceAllele": "G",
          "start": 2255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_006721129.1:c.2076G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721192.1:p.Pro692="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073961"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2532,
          "referenceAllele": "G",
          "start": 2531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522850.1:c.2352G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521152.1:p.Pro784="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089992"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2526,
          "referenceAllele": "G",
          "start": 2525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522851.1:c.2346G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521153.1:p.Pro782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089993"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2484,
          "referenceAllele": "G",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522852.1:c.2304G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521154.1:p.Pro768="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2391,
          "referenceAllele": "G",
          "start": 2390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522853.1:c.2211G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521155.1:p.Pro737="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2304,
          "referenceAllele": "G",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522854.1:c.2124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521156.1:p.Pro708="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2298,
          "referenceAllele": "G",
          "start": 2297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522855.1:c.2118G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521157.1:p.Pro706="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089997"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2839,
          "referenceAllele": "G",
          "start": 2838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522856.1:c.2091G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521158.1:p.Pro697="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1981,
          "referenceAllele": "G",
          "start": 1980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522859.1:c.1596G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521161.1:p.Pro532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1747,
          "referenceAllele": "G",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522860.1:c.1362G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521162.1:p.Pro454="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826997386",
      "coordinates": [
        {
          "allele": "A",
          "end": 1549,
          "referenceAllele": "G",
          "start": 1548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "NM_001318756.1:c.1362G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305685.1:p.Pro454="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830378286",
      "coordinates": [
        {
          "allele": "A",
          "end": 2251,
          "referenceAllele": "G",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "NM_178452.5:c.2070G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_848547.4:p.Pro690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526835"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2250,
          "referenceAllele": "G",
          "start": 2249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_006721129.3:c.2076G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721192.1:p.Pro692="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2385,
          "referenceAllele": "G",
          "start": 2384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522853.3:c.2211G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521155.1:p.Pro737="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2298,
          "referenceAllele": "G",
          "start": 2297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522854.3:c.2124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521156.1:p.Pro708="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2292,
          "referenceAllele": "G",
          "start": 2291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522855.3:c.2118G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521157.1:p.Pro706="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546786"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2337,
          "referenceAllele": "G",
          "start": 2336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_017022918.2:c.2163G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878407.1:p.Pro721="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2700,
          "referenceAllele": "G",
          "start": 2699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_017022919.1:c.1950G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878408.1:p.Pro650="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573762"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1765,
          "referenceAllele": "G",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_017022920.2:c.1455G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878409.1:p.Pro485="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573763"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1717,
          "referenceAllele": "G",
          "start": 1716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_017022921.2:c.1407G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878410.1:p.Pro469="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573764"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1624,
          "referenceAllele": "G",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_017022922.2:c.1314G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878411.1:p.Pro438="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2781,
          "referenceAllele": "G",
          "start": 2780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XR_001751829.2:n.2781G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2775,
          "referenceAllele": "G",
          "start": 2774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XR_001751830.2:n.2775G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2727,
          "referenceAllele": "G",
          "start": 2726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XR_001751831.2:n.2727G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5329,
          "referenceAllele": "G",
          "start": 5328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XR_001751832.1:n.5329G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830378286",
      "coordinates": [
        {
          "allele": "A",
          "end": 2203,
          "referenceAllele": "G",
          "start": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "NM_178452.6:c.2070G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_848547.4:p.Pro690="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672860",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378553.10:c.2070G>A"
          },
          "RefSeq": {
            "hgvs": "NM_178452.6:c.2070G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367815.5:p.Pro690="
          },
          "RefSeq": {
            "hgvs": "NP_848547.4:p.Pro690="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}