{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3201458",
  "communityStandardTitle": [
    "NM_001369.3(DNAH5):c.13072C>T (p.Arg4358Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3138890",
        "active": true,
        "id": "COSM3138890"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=297174[alleleid]",
        "alleleId": 297174,
        "preferredName": "NM_001369.3(DNAH5):c.13072C>T (p.Arg4358Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/351006",
        "RCV": [
          "RCV000264300",
          "RCV001309468"
        ],
        "variationId": 351006
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-13714567-G-A",
        "id": "5-13714567-G-A",
        "variant": "5:13714567 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13714567G>A?assembly=hg19",
        "id": "chr5:g.13714567G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13714458G>A?assembly=hg38",
        "id": "chr5:g.13714458G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/753960777",
        "rs": 753960777
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13714567-G-A?dataset=gnomad_r2_1",
        "id": "5-13714567-G-A",
        "variant": "5:13714567 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13714458-G-A?dataset=gnomad_r3",
        "id": "5-13714458-G-A",
        "variant": "5:13714458 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13714458-G-A?dataset=gnomad_r4",
        "id": "5-13714458-G-A",
        "variant": "5:13714458 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13714458,
          "referenceAllele": "G",
          "start": 13714457
        }
      ],
      "hgvs": [
        "NC_000005.10:g.13714458G>A",
        "CM000667.2:g.13714458G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13714567,
          "referenceAllele": "G",
          "start": 13714566
        }
      ],
      "hgvs": [
        "NC_000005.9:g.13714567G>A",
        "CM000667.1:g.13714567G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13767567,
          "referenceAllele": "G",
          "start": 13767566
        }
      ],
      "hgvs": [
        "NC_000005.8:g.13767567G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 235023,
          "referenceAllele": "C",
          "start": 235022
        }
      ],
      "hgvs": [
        "NG_013081.1:g.235023C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 235023,
          "referenceAllele": "C",
          "start": 235022
        }
      ],
      "hgvs": [
        "NG_013081.2:g.235023C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673632"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 405,
          "referenceAllele": "C",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000683611.1:n.405C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828583"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13322,
          "referenceAllele": "C",
          "start": 13321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.5:c.13072C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Arg4358Trp",
        "hgvsWellDefined": "ENSP00000265104.4:p.Arg4358Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.13072C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.13072C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Arg4358Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Arg4358Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13186,
          "referenceAllele": "C",
          "start": 13185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000681290.1:c.13027C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505288.1:p.Arg4343Trp",
        "hgvsWellDefined": "ENSP00000505288.1:p.Arg4343Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13177,
          "referenceAllele": "C",
          "start": 13176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.4:c.13072C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Arg4358Trp",
        "hgvsWellDefined": "ENSP00000265104.4:p.Arg4358Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645389641",
      "coordinates": [
        {
          "allele": "T",
          "end": 13114,
          "referenceAllele": "C",
          "start": 13113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.2:c.13072C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Arg4358Trp",
        "hgvsWellDefined": "NP_001360.1:p.Arg4358Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13127,
          "referenceAllele": "C",
          "start": 13126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.2:c.13027C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.1:p.Arg4343Trp",
        "hgvsWellDefined": "XP_005248319.1:p.Arg4343Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058370"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13197,
          "referenceAllele": "C",
          "start": 13196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.3:c.13180C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.2:p.Arg4394Trp",
        "hgvsWellDefined": "XP_005248319.2:p.Arg4394Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12830,
          "endIntronDirection": "+",
          "endIntronOffset": 2857,
          "referenceAllele": "C",
          "start": 12830,
          "startIntronDirection": "+",
          "startIntronOffset": 2856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009177.1:c.12813+2857C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864666.1:n.12813+2857C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14000,
          "referenceAllele": "C",
          "start": 13999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009178.1:c.12085C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864667.1:p.Arg4029Trp",
        "hgvsWellDefined": "XP_016864667.1:p.Arg4029Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12223,
          "referenceAllele": "C",
          "start": 12222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009179.2:c.12085C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864668.1:p.Arg4029Trp",
        "hgvsWellDefined": "XP_016864668.1:p.Arg4029Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8493,
          "referenceAllele": "C",
          "start": 8492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009185.1:c.8269C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864674.1:p.Arg2757Trp",
        "hgvsWellDefined": "XP_016864674.1:p.Arg2757Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7909,
          "referenceAllele": "C",
          "start": 7908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009186.1:c.7822C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864675.1:p.Arg2608Trp",
        "hgvsWellDefined": "XP_016864675.1:p.Arg2608Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8725,
          "referenceAllele": "C",
          "start": 8724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009188.1:c.7159C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864677.1:p.Arg2387Trp",
        "hgvsWellDefined": "XP_016864677.1:p.Arg2387Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15870,
          "referenceAllele": "C",
          "start": 15869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454388.1:c.12085C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310156.1:p.Arg4029Trp",
        "hgvsWellDefined": "XP_024310156.1:p.Arg4029Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14512,
          "referenceAllele": "C",
          "start": 14511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454389.1:c.11674C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310157.1:p.Arg3892Trp",
        "hgvsWellDefined": "XP_024310157.1:p.Arg3892Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645389641",
      "coordinates": [
        {
          "allele": "T",
          "end": 13322,
          "referenceAllele": "C",
          "start": 13321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.13072C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Arg4358Trp",
        "hgvsWellDefined": "NP_001360.1:p.Arg4358Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.13072C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.13072C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Arg4358Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Arg4358Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}