{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3204641",
  "communityStandardTitle": [
    "NM_001369.3(DNAH5):c.2224C>T (p.Arg742Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5995785",
        "active": true,
        "id": "COSM5995785"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=455431[alleleid]",
        "alleleId": 455431,
        "preferredName": "NM_001369.3(DNAH5):c.2224C>T (p.Arg742Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/454757",
        "RCV": [
          "RCV000559327",
          "RCV000760890",
          "RCV000763133"
        ],
        "variationId": 454757
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-13900350-G-A",
        "id": "5-13900350-G-A",
        "variant": "5:13900350 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13900350G>A?assembly=hg19",
        "id": "chr5:g.13900350G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13900241G>A?assembly=hg38",
        "id": "chr5:g.13900241G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/776686983",
        "rs": 776686983
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13900350-G-A?dataset=gnomad_r2_1",
        "id": "5-13900350-G-A",
        "variant": "5:13900350 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13900241-G-A?dataset=gnomad_r3",
        "id": "5-13900241-G-A",
        "variant": "5:13900241 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13900241-G-A?dataset=gnomad_r4",
        "id": "5-13900241-G-A",
        "variant": "5:13900241 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13900241,
          "referenceAllele": "G",
          "start": 13900240
        }
      ],
      "hgvs": [
        "NC_000005.10:g.13900241G>A",
        "CM000667.2:g.13900241G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13900350,
          "referenceAllele": "G",
          "start": 13900349
        }
      ],
      "hgvs": [
        "NC_000005.9:g.13900350G>A",
        "CM000667.1:g.13900350G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13953350,
          "referenceAllele": "G",
          "start": 13953349
        }
      ],
      "hgvs": [
        "NC_000005.8:g.13953350G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 49240,
          "referenceAllele": "C",
          "start": 49239
        }
      ],
      "hgvs": [
        "NG_013081.1:g.49240C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 49240,
          "referenceAllele": "C",
          "start": 49239
        }
      ],
      "hgvs": [
        "NG_013081.2:g.49240C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673632"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2474,
          "referenceAllele": "C",
          "start": 2473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.5:c.2224C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Arg742Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.2224C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.2224C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Arg742Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Arg742Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2338,
          "referenceAllele": "C",
          "start": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000681290.1:c.2179C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505288.1:p.Arg727Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2329,
          "referenceAllele": "C",
          "start": 2328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.4:c.2224C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Arg742Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "referenceAllele": "C",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.2:c.2224C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Arg742Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2279,
          "referenceAllele": "C",
          "start": 2278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.2:c.2179C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.1:p.Arg727Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058370"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2431,
          "referenceAllele": "C",
          "start": 2430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_011513990.1:c.2224C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512292.1:p.Arg742Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2431,
          "referenceAllele": "C",
          "start": 2430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_925598.1:n.2431C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2349,
          "referenceAllele": "C",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.3:c.2332C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.2:p.Arg778Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2349,
          "referenceAllele": "C",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009177.1:c.2332C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864666.1:p.Arg778Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3152,
          "referenceAllele": "C",
          "start": 3151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009178.1:c.1237C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864667.1:p.Arg413Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1375,
          "referenceAllele": "C",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009179.2:c.1237C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864668.1:p.Arg413Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2349,
          "referenceAllele": "C",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009180.1:c.2332C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864669.1:p.Arg778Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2349,
          "referenceAllele": "C",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009181.1:c.2332C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864670.1:p.Arg778Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2349,
          "referenceAllele": "C",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009182.1:c.2332C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864671.1:p.Arg778Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2349,
          "referenceAllele": "C",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009183.1:c.2332C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864672.1:p.Arg778Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2349,
          "referenceAllele": "C",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009184.1:c.2332C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864673.1:p.Arg778Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2349,
          "referenceAllele": "C",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009187.1:c.2332C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864676.1:p.Arg778Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5022,
          "referenceAllele": "C",
          "start": 5021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454388.1:c.1237C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310156.1:p.Arg413Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3664,
          "referenceAllele": "C",
          "start": 3663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454389.1:c.826C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310157.1:p.Arg276Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2349,
          "referenceAllele": "C",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_001742034.1:n.2349C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2349,
          "referenceAllele": "C",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_001742035.1:n.2349C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2474,
          "referenceAllele": "C",
          "start": 2473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.2224C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Arg742Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.2224C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.2224C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Arg742Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Arg742Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}