{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3201367",
  "communityStandardTitle": [
    "NM_001369.3(DNAH5):c.13437C>T (p.Cys4479=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=395343[alleleid]",
        "alleleId": 395343,
        "preferredName": "NM_001369.3(DNAH5):c.13437C>T (p.Cys4479=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/414354",
        "RCV": [
          "RCV000466536",
          "RCV001154226"
        ],
        "variationId": 414354
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-13701447-G-A",
        "id": "5-13701447-G-A",
        "variant": "5:13701447 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13701447G>A?assembly=hg19",
        "id": "chr5:g.13701447G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13701338G>A?assembly=hg38",
        "id": "chr5:g.13701338G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/376510352",
        "rs": 376510352
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13701447-G-A?dataset=gnomad_r2_1",
        "id": "5-13701447-G-A",
        "variant": "5:13701447 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13701338-G-A?dataset=gnomad_r3",
        "id": "5-13701338-G-A",
        "variant": "5:13701338 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13701338-G-A?dataset=gnomad_r4",
        "id": "5-13701338-G-A",
        "variant": "5:13701338 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13701338,
          "referenceAllele": "G",
          "start": 13701337
        }
      ],
      "hgvs": [
        "NC_000005.10:g.13701338G>A",
        "CM000667.2:g.13701338G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13701447,
          "referenceAllele": "G",
          "start": 13701446
        }
      ],
      "hgvs": [
        "NC_000005.9:g.13701447G>A",
        "CM000667.1:g.13701447G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13754447,
          "referenceAllele": "G",
          "start": 13754446
        }
      ],
      "hgvs": [
        "NC_000005.8:g.13754447G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 248143,
          "referenceAllele": "C",
          "start": 248142
        }
      ],
      "hgvs": [
        "NG_013081.1:g.248143C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 248143,
          "referenceAllele": "C",
          "start": 248142
        }
      ],
      "hgvs": [
        "NG_013081.2:g.248143C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673632"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "C",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000683611.1:n.770C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828583"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13687,
          "referenceAllele": "C",
          "start": 13686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.5:c.13437C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Cys4479="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.13437C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.13437C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Cys4479="
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Cys4479="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13551,
          "referenceAllele": "C",
          "start": 13550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000681290.1:c.13392C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505288.1:p.Cys4464="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13542,
          "referenceAllele": "C",
          "start": 13541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.4:c.13437C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Cys4479="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828452460",
      "coordinates": [
        {
          "allele": "T",
          "end": 13479,
          "referenceAllele": "C",
          "start": 13478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.2:c.13437C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Cys4479="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13492,
          "referenceAllele": "C",
          "start": 13491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.2:c.13392C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.1:p.Cys4464="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058370"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13562,
          "referenceAllele": "C",
          "start": 13561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.3:c.13545C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.2:p.Cys4515="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13142,
          "referenceAllele": "C",
          "start": 13141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009177.1:c.13125C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864666.1:p.Cys4375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14365,
          "referenceAllele": "C",
          "start": 14364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009178.1:c.12450C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864667.1:p.Cys4150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12588,
          "referenceAllele": "C",
          "start": 12587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009179.2:c.12450C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864668.1:p.Cys4150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8858,
          "referenceAllele": "C",
          "start": 8857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009185.1:c.8634C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864674.1:p.Cys2878="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8274,
          "referenceAllele": "C",
          "start": 8273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009186.1:c.8187C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864675.1:p.Cys2729="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9090,
          "referenceAllele": "C",
          "start": 9089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009188.1:c.7524C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864677.1:p.Cys2508="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16235,
          "referenceAllele": "C",
          "start": 16234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454388.1:c.12450C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310156.1:p.Cys4150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14877,
          "referenceAllele": "C",
          "start": 14876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454389.1:c.12039C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310157.1:p.Cys4013="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828452460",
      "coordinates": [
        {
          "allele": "T",
          "end": 13687,
          "referenceAllele": "C",
          "start": 13686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.13437C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Cys4479="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.13437C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.13437C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Cys4479="
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Cys4479="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}