{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3202693",
  "communityStandardTitle": [
    "NM_001369.3(DNAH5):c.8840C>T (p.Thr2947Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=229251[alleleid]",
        "alleleId": 229251,
        "preferredName": "NM_001369.3(DNAH5):c.8840C>T (p.Thr2947Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/228609",
        "RCV": [
          "RCV000223383",
          "RCV001833204"
        ],
        "variationId": 228609
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-13781049-G-A",
        "id": "5-13781049-G-A",
        "variant": "5:13781049 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13781049G>A?assembly=hg19",
        "id": "chr5:g.13781049G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13780940G>A?assembly=hg38",
        "id": "chr5:g.13780940G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/756216163",
        "rs": 756216163
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13781049-G-A?dataset=gnomad_r2_1",
        "id": "5-13781049-G-A",
        "variant": "5:13781049 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13780940-G-A?dataset=gnomad_r3",
        "id": "5-13780940-G-A",
        "variant": "5:13780940 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13780940-G-A?dataset=gnomad_r4",
        "id": "5-13780940-G-A",
        "variant": "5:13780940 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13780940,
          "referenceAllele": "G",
          "start": 13780939
        }
      ],
      "hgvs": [
        "NC_000005.10:g.13780940G>A",
        "CM000667.2:g.13780940G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13781049,
          "referenceAllele": "G",
          "start": 13781048
        }
      ],
      "hgvs": [
        "NC_000005.9:g.13781049G>A",
        "CM000667.1:g.13781049G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13834049,
          "referenceAllele": "G",
          "start": 13834048
        }
      ],
      "hgvs": [
        "NC_000005.8:g.13834049G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 168541,
          "referenceAllele": "C",
          "start": 168540
        }
      ],
      "hgvs": [
        "NG_013081.1:g.168541C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 168541,
          "referenceAllele": "C",
          "start": 168540
        }
      ],
      "hgvs": [
        "NG_013081.2:g.168541C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673632"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9090,
          "referenceAllele": "C",
          "start": 9089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.5:c.8840C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Thr2947Ile",
        "hgvsWellDefined": "ENSP00000265104.4:p.Thr2947Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.8840C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.8840C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Thr2947Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Thr2947Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8954,
          "referenceAllele": "C",
          "start": 8953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000681290.1:c.8795C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505288.1:p.Thr2932Ile",
        "hgvsWellDefined": "ENSP00000505288.1:p.Thr2932Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8945,
          "referenceAllele": "C",
          "start": 8944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.4:c.8840C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Thr2947Ile",
        "hgvsWellDefined": "ENSP00000265104.4:p.Thr2947Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645388889",
      "coordinates": [
        {
          "allele": "T",
          "end": 8882,
          "referenceAllele": "C",
          "start": 8881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.2:c.8840C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Thr2947Ile",
        "hgvsWellDefined": "NP_001360.1:p.Thr2947Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8895,
          "referenceAllele": "C",
          "start": 8894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.2:c.8795C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.1:p.Thr2932Ile",
        "hgvsWellDefined": "XP_005248319.1:p.Thr2932Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058370"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9047,
          "referenceAllele": "C",
          "start": 9046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_011513990.1:c.8840C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512292.1:p.Thr2947Ile",
        "hgvsWellDefined": "XP_011512292.1:p.Thr2947Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9027,
          "endIntronDirection": "-",
          "endIntronOffset": 3584,
          "referenceAllele": "C",
          "start": 9027,
          "startIntronDirection": "-",
          "startIntronOffset": 3585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_925598.1:n.9028-3585C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8965,
          "referenceAllele": "C",
          "start": 8964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.3:c.8948C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.2:p.Thr2983Ile",
        "hgvsWellDefined": "XP_005248319.2:p.Thr2983Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8965,
          "referenceAllele": "C",
          "start": 8964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009177.1:c.8948C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864666.1:p.Thr2983Ile",
        "hgvsWellDefined": "XP_016864666.1:p.Thr2983Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9768,
          "referenceAllele": "C",
          "start": 9767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009178.1:c.7853C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864667.1:p.Thr2618Ile",
        "hgvsWellDefined": "XP_016864667.1:p.Thr2618Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7991,
          "referenceAllele": "C",
          "start": 7990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009179.2:c.7853C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864668.1:p.Thr2618Ile",
        "hgvsWellDefined": "XP_016864668.1:p.Thr2618Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8965,
          "referenceAllele": "C",
          "start": 8964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009180.1:c.8948C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864669.1:p.Thr2983Ile",
        "hgvsWellDefined": "XP_016864669.1:p.Thr2983Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8965,
          "referenceAllele": "C",
          "start": 8964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009181.1:c.8948C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864670.1:p.Thr2983Ile",
        "hgvsWellDefined": "XP_016864670.1:p.Thr2983Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8965,
          "referenceAllele": "C",
          "start": 8964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009182.1:c.8948C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864671.1:p.Thr2983Ile",
        "hgvsWellDefined": "XP_016864671.1:p.Thr2983Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8965,
          "referenceAllele": "C",
          "start": 8964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009183.1:c.8948C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864672.1:p.Thr2983Ile",
        "hgvsWellDefined": "XP_016864672.1:p.Thr2983Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8965,
          "referenceAllele": "C",
          "start": 8964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009184.1:c.8948C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864673.1:p.Thr2983Ile",
        "hgvsWellDefined": "XP_016864673.1:p.Thr2983Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4261,
          "referenceAllele": "C",
          "start": 4260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009185.1:c.4037C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864674.1:p.Thr1346Ile",
        "hgvsWellDefined": "XP_016864674.1:p.Thr1346Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3677,
          "referenceAllele": "C",
          "start": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009186.1:c.3590C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864675.1:p.Thr1197Ile",
        "hgvsWellDefined": "XP_016864675.1:p.Thr1197Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4493,
          "referenceAllele": "C",
          "start": 4492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009188.1:c.2927C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864677.1:p.Thr976Ile",
        "hgvsWellDefined": "XP_016864677.1:p.Thr976Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11638,
          "referenceAllele": "C",
          "start": 11637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454388.1:c.7853C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310156.1:p.Thr2618Ile",
        "hgvsWellDefined": "XP_024310156.1:p.Thr2618Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10280,
          "referenceAllele": "C",
          "start": 10279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454389.1:c.7442C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310157.1:p.Thr2481Ile",
        "hgvsWellDefined": "XP_024310157.1:p.Thr2481Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8945,
          "endIntronDirection": "-",
          "endIntronOffset": 3584,
          "referenceAllele": "C",
          "start": 8945,
          "startIntronDirection": "-",
          "startIntronOffset": 3585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_001742034.1:n.8946-3585C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8945,
          "endIntronDirection": "-",
          "endIntronOffset": 3584,
          "referenceAllele": "C",
          "start": 8945,
          "startIntronDirection": "-",
          "startIntronOffset": 3585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_001742035.1:n.8946-3585C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645388889",
      "coordinates": [
        {
          "allele": "T",
          "end": 9090,
          "referenceAllele": "C",
          "start": 9089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.8840C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Thr2947Ile",
        "hgvsWellDefined": "NP_001360.1:p.Thr2947Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.8840C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.8840C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Thr2947Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Thr2947Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}