{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3203678",
  "communityStandardTitle": [
    "NM_001369.3(DNAH5):c.5425G>A (p.Ala1809Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1061491",
        "active": true,
        "id": "COSM1061491"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=295513[alleleid]",
        "alleleId": 295513,
        "preferredName": "NM_001369.3(DNAH5):c.5425G>A (p.Ala1809Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/351091",
        "RCV": [
          "RCV000286231",
          "RCV002348104"
        ],
        "variationId": 351091
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-13841860-C-T",
        "id": "5-13841860-C-T",
        "variant": "5:13841860 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13841860C>T?assembly=hg19",
        "id": "chr5:g.13841860C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13841751C>T?assembly=hg38",
        "id": "chr5:g.13841751C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/758513686",
        "rs": 758513686
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13841860-C-T?dataset=gnomad_r2_1",
        "id": "5-13841860-C-T",
        "variant": "5:13841860 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13841751-C-T?dataset=gnomad_r3",
        "id": "5-13841751-C-T",
        "variant": "5:13841751 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13841751-C-T?dataset=gnomad_r4",
        "id": "5-13841751-C-T",
        "variant": "5:13841751 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 13841751,
          "referenceAllele": "C",
          "start": 13841750
        }
      ],
      "hgvs": [
        "NC_000005.10:g.13841751C>T",
        "CM000667.2:g.13841751C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 13841860,
          "referenceAllele": "C",
          "start": 13841859
        }
      ],
      "hgvs": [
        "NC_000005.9:g.13841860C>T",
        "CM000667.1:g.13841860C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 13894860,
          "referenceAllele": "C",
          "start": 13894859
        }
      ],
      "hgvs": [
        "NC_000005.8:g.13894860C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 107730,
          "referenceAllele": "G",
          "start": 107729
        }
      ],
      "hgvs": [
        "NG_013081.1:g.107730G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 107730,
          "referenceAllele": "G",
          "start": 107729
        }
      ],
      "hgvs": [
        "NG_013081.2:g.107730G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673632"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5675,
          "referenceAllele": "G",
          "start": 5674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.5:c.5425G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Ala1809Thr",
        "hgvsWellDefined": "ENSP00000265104.4:p.Ala1809Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.5425G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.5425G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Ala1809Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Ala1809Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5539,
          "referenceAllele": "G",
          "start": 5538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000681290.1:c.5380G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505288.1:p.Ala1794Thr",
        "hgvsWellDefined": "ENSP00000505288.1:p.Ala1794Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5530,
          "referenceAllele": "G",
          "start": 5529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.4:c.5425G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Ala1809Thr",
        "hgvsWellDefined": "ENSP00000265104.4:p.Ala1809Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645388212",
      "coordinates": [
        {
          "allele": "A",
          "end": 5467,
          "referenceAllele": "G",
          "start": 5466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.2:c.5425G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Ala1809Thr",
        "hgvsWellDefined": "NP_001360.1:p.Ala1809Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5480,
          "referenceAllele": "G",
          "start": 5479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.2:c.5380G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.1:p.Ala1794Thr",
        "hgvsWellDefined": "XP_005248319.1:p.Ala1794Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5632,
          "referenceAllele": "G",
          "start": 5631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_011513990.1:c.5425G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512292.1:p.Ala1809Thr",
        "hgvsWellDefined": "XP_011512292.1:p.Ala1809Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5632,
          "referenceAllele": "G",
          "start": 5631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_925598.1:n.5632G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122426"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5550,
          "referenceAllele": "G",
          "start": 5549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.3:c.5533G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.2:p.Ala1845Thr",
        "hgvsWellDefined": "XP_005248319.2:p.Ala1845Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5550,
          "referenceAllele": "G",
          "start": 5549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009177.1:c.5533G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864666.1:p.Ala1845Thr",
        "hgvsWellDefined": "XP_016864666.1:p.Ala1845Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6353,
          "referenceAllele": "G",
          "start": 6352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009178.1:c.4438G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864667.1:p.Ala1480Thr",
        "hgvsWellDefined": "XP_016864667.1:p.Ala1480Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4576,
          "referenceAllele": "G",
          "start": 4575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009179.2:c.4438G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864668.1:p.Ala1480Thr",
        "hgvsWellDefined": "XP_016864668.1:p.Ala1480Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5550,
          "referenceAllele": "G",
          "start": 5549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009180.1:c.5533G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864669.1:p.Ala1845Thr",
        "hgvsWellDefined": "XP_016864669.1:p.Ala1845Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5550,
          "referenceAllele": "G",
          "start": 5549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009181.1:c.5533G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864670.1:p.Ala1845Thr",
        "hgvsWellDefined": "XP_016864670.1:p.Ala1845Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5550,
          "referenceAllele": "G",
          "start": 5549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009182.1:c.5533G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864671.1:p.Ala1845Thr",
        "hgvsWellDefined": "XP_016864671.1:p.Ala1845Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5550,
          "referenceAllele": "G",
          "start": 5549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009183.1:c.5533G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864672.1:p.Ala1845Thr",
        "hgvsWellDefined": "XP_016864672.1:p.Ala1845Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5550,
          "referenceAllele": "G",
          "start": 5549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009184.1:c.5533G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864673.1:p.Ala1845Thr",
        "hgvsWellDefined": "XP_016864673.1:p.Ala1845Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 846,
          "referenceAllele": "G",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009185.1:c.622G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864674.1:p.Ala208Thr",
        "hgvsWellDefined": "XP_016864674.1:p.Ala208Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 262,
          "referenceAllele": "G",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009186.1:c.175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864675.1:p.Ala59Thr",
        "hgvsWellDefined": "XP_016864675.1:p.Ala59Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5550,
          "referenceAllele": "G",
          "start": 5549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009187.1:c.5533G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864676.1:p.Ala1845Thr",
        "hgvsWellDefined": "XP_016864676.1:p.Ala1845Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8223,
          "referenceAllele": "G",
          "start": 8222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454388.1:c.4438G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310156.1:p.Ala1480Thr",
        "hgvsWellDefined": "XP_024310156.1:p.Ala1480Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6865,
          "referenceAllele": "G",
          "start": 6864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454389.1:c.4027G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310157.1:p.Ala1343Thr",
        "hgvsWellDefined": "XP_024310157.1:p.Ala1343Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5550,
          "referenceAllele": "G",
          "start": 5549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_001742034.1:n.5550G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5550,
          "referenceAllele": "G",
          "start": 5549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_001742035.1:n.5550G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645388212",
      "coordinates": [
        {
          "allele": "A",
          "end": 5675,
          "referenceAllele": "G",
          "start": 5674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.5425G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Ala1809Thr",
        "hgvsWellDefined": "NP_001360.1:p.Ala1809Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.5425G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.5425G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Ala1809Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Ala1809Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}