{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3201712",
  "communityStandardTitle": [
    "NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=229244[alleleid]",
        "alleleId": 229244,
        "preferredName": "NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/228608",
        "RCV": [
          "RCV000223150",
          "RCV001833203"
        ],
        "variationId": 228608
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-13721179-G-A",
        "id": "5-13721179-G-A",
        "variant": "5:13721179 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13721179G>A?assembly=hg19",
        "id": "chr5:g.13721179G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13721070G>A?assembly=hg38",
        "id": "chr5:g.13721070G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/746662023",
        "rs": 746662023
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13721179-G-A?dataset=gnomad_r2_1",
        "id": "5-13721179-G-A",
        "variant": "5:13721179 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13721070-G-A?dataset=gnomad_r3",
        "id": "5-13721070-G-A",
        "variant": "5:13721070 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-13721070-G-A?dataset=gnomad_r4",
        "id": "5-13721070-G-A",
        "variant": "5:13721070 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13721070,
          "referenceAllele": "G",
          "start": 13721069
        }
      ],
      "hgvs": [
        "NC_000005.10:g.13721070G>A",
        "CM000667.2:g.13721070G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13721179,
          "referenceAllele": "G",
          "start": 13721178
        }
      ],
      "hgvs": [
        "NC_000005.9:g.13721179G>A",
        "CM000667.1:g.13721179G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13774179,
          "referenceAllele": "G",
          "start": 13774178
        }
      ],
      "hgvs": [
        "NC_000005.8:g.13774179G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 228411,
          "referenceAllele": "C",
          "start": 228410
        }
      ],
      "hgvs": [
        "NG_013081.1:g.228411C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 228411,
          "referenceAllele": "C",
          "start": 228410
        }
      ],
      "hgvs": [
        "NG_013081.2:g.228411C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673632"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12459,
          "referenceAllele": "C",
          "start": 12458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.5:c.12209C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Thr4070Ile",
        "hgvsWellDefined": "ENSP00000265104.4:p.Thr4070Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.12209C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.12209C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Thr4070Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Thr4070Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12323,
          "referenceAllele": "C",
          "start": 12322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000681290.1:c.12164C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505288.1:p.Thr4055Ile",
        "hgvsWellDefined": "ENSP00000505288.1:p.Thr4055Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12314,
          "referenceAllele": "C",
          "start": 12313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.4:c.12209C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Thr4070Ile",
        "hgvsWellDefined": "ENSP00000265104.4:p.Thr4070Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645389145",
      "coordinates": [
        {
          "allele": "T",
          "end": 12251,
          "referenceAllele": "C",
          "start": 12250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.2:c.12209C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Thr4070Ile",
        "hgvsWellDefined": "NP_001360.1:p.Thr4070Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12264,
          "referenceAllele": "C",
          "start": 12263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.2:c.12164C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.1:p.Thr4055Ile",
        "hgvsWellDefined": "XP_005248319.1:p.Thr4055Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058370"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12334,
          "referenceAllele": "C",
          "start": 12333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.3:c.12317C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.2:p.Thr4106Ile",
        "hgvsWellDefined": "XP_005248319.2:p.Thr4106Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12334,
          "referenceAllele": "C",
          "start": 12333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009177.1:c.12317C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864666.1:p.Thr4106Ile",
        "hgvsWellDefined": "XP_016864666.1:p.Thr4106Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13137,
          "referenceAllele": "C",
          "start": 13136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009178.1:c.11222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864667.1:p.Thr3741Ile",
        "hgvsWellDefined": "XP_016864667.1:p.Thr3741Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11360,
          "referenceAllele": "C",
          "start": 11359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009179.2:c.11222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864668.1:p.Thr3741Ile",
        "hgvsWellDefined": "XP_016864668.1:p.Thr3741Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12334,
          "referenceAllele": "C",
          "start": 12333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009180.1:c.12317C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864669.1:p.Thr4106Ile",
        "hgvsWellDefined": "XP_016864669.1:p.Thr4106Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7630,
          "referenceAllele": "C",
          "start": 7629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009185.1:c.7406C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864674.1:p.Thr2469Ile",
        "hgvsWellDefined": "XP_016864674.1:p.Thr2469Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7046,
          "referenceAllele": "C",
          "start": 7045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009186.1:c.6959C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864675.1:p.Thr2320Ile",
        "hgvsWellDefined": "XP_016864675.1:p.Thr2320Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7862,
          "referenceAllele": "C",
          "start": 7861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009188.1:c.6296C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864677.1:p.Thr2099Ile",
        "hgvsWellDefined": "XP_016864677.1:p.Thr2099Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15007,
          "referenceAllele": "C",
          "start": 15006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454388.1:c.11222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310156.1:p.Thr3741Ile",
        "hgvsWellDefined": "XP_024310156.1:p.Thr3741Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13649,
          "referenceAllele": "C",
          "start": 13648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454389.1:c.10811C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310157.1:p.Thr3604Ile",
        "hgvsWellDefined": "XP_024310157.1:p.Thr3604Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645389145",
      "coordinates": [
        {
          "allele": "T",
          "end": 12459,
          "referenceAllele": "C",
          "start": 12458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.12209C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Thr4070Ile",
        "hgvsWellDefined": "NP_001360.1:p.Thr4070Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.12209C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.12209C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Thr4070Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Thr4070Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}