{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3205054",
  "communityStandardTitle": [
    "NM_001369.3(DNAH5):c.841G>A (p.Val281Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=239764[alleleid]",
        "alleleId": 239764,
        "preferredName": "NM_001369.3(DNAH5):c.841G>A (p.Val281Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/238988",
        "RCV": [
          "RCV000225882"
        ],
        "variationId": 238988
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-13919419-C-T",
        "id": "5-13919419-C-T",
        "variant": "5:13919419 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13919419C>T?assembly=hg19",
        "id": "chr5:g.13919419C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13919310C>T?assembly=hg38",
        "id": "chr5:g.13919310C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/548585661",
        "rs": 548585661
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13919419-C-T?dataset=gnomad_r2_1",
        "id": "5-13919419-C-T",
        "variant": "5:13919419 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13919310-C-T?dataset=gnomad_r4",
        "id": "5-13919310-C-T",
        "variant": "5:13919310 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 13919310,
          "referenceAllele": "C",
          "start": 13919309
        }
      ],
      "hgvs": [
        "NC_000005.10:g.13919310C>T",
        "CM000667.2:g.13919310C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 13919419,
          "referenceAllele": "C",
          "start": 13919418
        }
      ],
      "hgvs": [
        "NC_000005.9:g.13919419C>T",
        "CM000667.1:g.13919419C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 13972419,
          "referenceAllele": "C",
          "start": 13972418
        }
      ],
      "hgvs": [
        "NC_000005.8:g.13972419C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 30171,
          "referenceAllele": "G",
          "start": 30170
        }
      ],
      "hgvs": [
        "NG_013081.1:g.30171G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 30171,
          "referenceAllele": "G",
          "start": 30170
        }
      ],
      "hgvs": [
        "NG_013081.2:g.30171G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673632"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 897,
          "referenceAllele": "G",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000680213.2:n.897G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826947"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 885,
          "referenceAllele": "G",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000682376.1:n.885G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 934,
          "referenceAllele": "G",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000682586.1:n.934G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 780,
          "referenceAllele": "G",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000683011.1:n.780G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 940,
          "referenceAllele": "G",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000683967.1:n.940G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 940,
          "referenceAllele": "G",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000684013.1:n.940G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828975"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 936,
          "referenceAllele": "G",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000684099.1:n.936G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829058"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1091,
          "referenceAllele": "G",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.5:c.841G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Val281Ile",
        "hgvsWellDefined": "ENSP00000265104.4:p.Val281Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.841G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.841G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Val281Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Val281Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 897,
          "referenceAllele": "G",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000680213.1:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506622.1:p.Val201Ile",
        "hgvsWellDefined": "ENSP00000506622.1:p.Val201Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779833"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 955,
          "referenceAllele": "G",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000681290.1:c.796G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505288.1:p.Val266Ile",
        "hgvsWellDefined": "ENSP00000505288.1:p.Val266Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 946,
          "referenceAllele": "G",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.4:c.841G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Val281Ile",
        "hgvsWellDefined": "ENSP00000265104.4:p.Val281Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1249,
          "referenceAllele": "G",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000508040.1:n.1249G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339162"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645387747",
      "coordinates": [
        {
          "allele": "A",
          "end": 883,
          "referenceAllele": "G",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.2:c.841G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Val281Ile",
        "hgvsWellDefined": "NP_001360.1:p.Val281Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 896,
          "referenceAllele": "G",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.2:c.796G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.1:p.Val266Ile",
        "hgvsWellDefined": "XP_005248319.1:p.Val266Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1048,
          "referenceAllele": "G",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_011513990.1:c.841G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512292.1:p.Val281Ile",
        "hgvsWellDefined": "XP_011512292.1:p.Val281Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1048,
          "referenceAllele": "G",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_925598.1:n.1048G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122426"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 966,
          "referenceAllele": "G",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.3:c.949G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.2:p.Val317Ile",
        "hgvsWellDefined": "XP_005248319.2:p.Val317Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 966,
          "referenceAllele": "G",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009177.1:c.949G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864666.1:p.Val317Ile",
        "hgvsWellDefined": "XP_016864666.1:p.Val317Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1769,
          "referenceAllele": "G",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009178.1:c.-147G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864667.1:n.-147G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 966,
          "referenceAllele": "G",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009180.1:c.949G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864669.1:p.Val317Ile",
        "hgvsWellDefined": "XP_016864669.1:p.Val317Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 966,
          "referenceAllele": "G",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009181.1:c.949G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864670.1:p.Val317Ile",
        "hgvsWellDefined": "XP_016864670.1:p.Val317Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 966,
          "referenceAllele": "G",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009182.1:c.949G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864671.1:p.Val317Ile",
        "hgvsWellDefined": "XP_016864671.1:p.Val317Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 966,
          "referenceAllele": "G",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009183.1:c.949G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864672.1:p.Val317Ile",
        "hgvsWellDefined": "XP_016864672.1:p.Val317Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 966,
          "referenceAllele": "G",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009184.1:c.949G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864673.1:p.Val317Ile",
        "hgvsWellDefined": "XP_016864673.1:p.Val317Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 966,
          "referenceAllele": "G",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009187.1:c.949G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864676.1:p.Val317Ile",
        "hgvsWellDefined": "XP_016864676.1:p.Val317Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1720,
          "referenceAllele": "G",
          "start": 1719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454388.1:c.-2066G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310156.1:n.-2066G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1720,
          "referenceAllele": "G",
          "start": 1719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454389.1:c.-1119G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310157.1:n.-1119G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 966,
          "referenceAllele": "G",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_001742034.1:n.966G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 966,
          "referenceAllele": "G",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_001742035.1:n.966G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645387747",
      "coordinates": [
        {
          "allele": "A",
          "end": 1091,
          "referenceAllele": "G",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.841G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Val281Ile",
        "hgvsWellDefined": "NP_001360.1:p.Val281Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.841G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.841G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Val281Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Val281Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}