{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3203670",
  "communityStandardTitle": [
    "NM_001369.3(DNAH5):c.5472C>T (p.Ser1824=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=301300[alleleid]",
        "alleleId": 301300,
        "preferredName": "NM_001369.3(DNAH5):c.5472C>T (p.Ser1824=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/351090",
        "RCV": [
          "RCV000382876",
          "RCV001461186"
        ],
        "variationId": 351090
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-13841813-G-A",
        "id": "5-13841813-G-A",
        "variant": "5:13841813 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13841813G>A?assembly=hg19",
        "id": "chr5:g.13841813G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13841704G>A?assembly=hg38",
        "id": "chr5:g.13841704G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/372046349",
        "rs": 372046349
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13841813-G-A?dataset=gnomad_r2_1",
        "id": "5-13841813-G-A",
        "variant": "5:13841813 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13841704-G-A?dataset=gnomad_r3",
        "id": "5-13841704-G-A",
        "variant": "5:13841704 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13841704-G-A?dataset=gnomad_r4",
        "id": "5-13841704-G-A",
        "variant": "5:13841704 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13841704,
          "referenceAllele": "G",
          "start": 13841703
        }
      ],
      "hgvs": [
        "NC_000005.10:g.13841704G>A",
        "CM000667.2:g.13841704G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13841813,
          "referenceAllele": "G",
          "start": 13841812
        }
      ],
      "hgvs": [
        "NC_000005.9:g.13841813G>A",
        "CM000667.1:g.13841813G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13894813,
          "referenceAllele": "G",
          "start": 13894812
        }
      ],
      "hgvs": [
        "NC_000005.8:g.13894813G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 107777,
          "referenceAllele": "C",
          "start": 107776
        }
      ],
      "hgvs": [
        "NG_013081.1:g.107777C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 107777,
          "referenceAllele": "C",
          "start": 107776
        }
      ],
      "hgvs": [
        "NG_013081.2:g.107777C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673632"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5722,
          "referenceAllele": "C",
          "start": 5721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.5:c.5472C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Ser1824="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.5472C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.5472C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Ser1824="
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Ser1824="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5586,
          "referenceAllele": "C",
          "start": 5585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000681290.1:c.5427C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505288.1:p.Ser1809="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5577,
          "referenceAllele": "C",
          "start": 5576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.4:c.5472C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Ser1824="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828445242",
      "coordinates": [
        {
          "allele": "T",
          "end": 5514,
          "referenceAllele": "C",
          "start": 5513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.2:c.5472C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Ser1824="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5527,
          "referenceAllele": "C",
          "start": 5526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.2:c.5427C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.1:p.Ser1809="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058370"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5679,
          "referenceAllele": "C",
          "start": 5678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_011513990.1:c.5472C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512292.1:p.Ser1824="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5679,
          "referenceAllele": "C",
          "start": 5678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_925598.1:n.5679C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5597,
          "referenceAllele": "C",
          "start": 5596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.3:c.5580C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.2:p.Ser1860="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5597,
          "referenceAllele": "C",
          "start": 5596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009177.1:c.5580C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864666.1:p.Ser1860="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6400,
          "referenceAllele": "C",
          "start": 6399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009178.1:c.4485C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864667.1:p.Ser1495="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4623,
          "referenceAllele": "C",
          "start": 4622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009179.2:c.4485C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864668.1:p.Ser1495="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5597,
          "referenceAllele": "C",
          "start": 5596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009180.1:c.5580C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864669.1:p.Ser1860="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5597,
          "referenceAllele": "C",
          "start": 5596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009181.1:c.5580C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864670.1:p.Ser1860="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5597,
          "referenceAllele": "C",
          "start": 5596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009182.1:c.5580C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864671.1:p.Ser1860="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5597,
          "referenceAllele": "C",
          "start": 5596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009183.1:c.5580C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864672.1:p.Ser1860="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5597,
          "referenceAllele": "C",
          "start": 5596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009184.1:c.5580C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864673.1:p.Ser1860="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 893,
          "referenceAllele": "C",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009185.1:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864674.1:p.Ser223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 309,
          "referenceAllele": "C",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009186.1:c.222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864675.1:p.Ser74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5597,
          "referenceAllele": "C",
          "start": 5596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009187.1:c.5580C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864676.1:p.Ser1860="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8270,
          "referenceAllele": "C",
          "start": 8269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454388.1:c.4485C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310156.1:p.Ser1495="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6912,
          "referenceAllele": "C",
          "start": 6911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454389.1:c.4074C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310157.1:p.Ser1358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5597,
          "referenceAllele": "C",
          "start": 5596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_001742034.1:n.5597C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5597,
          "referenceAllele": "C",
          "start": 5596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_001742035.1:n.5597C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828445242",
      "coordinates": [
        {
          "allele": "T",
          "end": 5722,
          "referenceAllele": "C",
          "start": 5721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.5472C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Ser1824="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.5472C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.5472C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Ser1824="
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Ser1824="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}