{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA359218685",
  "communityStandardTitle": [
    "NM_001369.3(DNAH5):c.8448+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1693011[alleleid]",
        "alleleId": 1693011,
        "preferredName": "NM_001369.3(DNAH5):c.8448+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1700617",
        "RCV": [
          "RCV002274851"
        ],
        "variationId": 1700617
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13792102C>T?assembly=hg19",
        "id": "chr5:g.13792102C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13791993C>T?assembly=hg38",
        "id": "chr5:g.13791993C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2126899484",
        "rs": 2126899484
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 13791993,
          "referenceAllele": "C",
          "start": 13791992
        }
      ],
      "hgvs": [
        "NC_000005.10:g.13791993C>T",
        "CM000667.2:g.13791993C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 13792102,
          "referenceAllele": "C",
          "start": 13792101
        }
      ],
      "hgvs": [
        "NC_000005.9:g.13792102C>T",
        "CM000667.1:g.13792102C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 13845102,
          "referenceAllele": "C",
          "start": 13845101
        }
      ],
      "hgvs": [
        "NC_000005.8:g.13845102C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 157488,
          "referenceAllele": "G",
          "start": 157487
        }
      ],
      "hgvs": [
        "NG_013081.1:g.157488G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 157488,
          "referenceAllele": "G",
          "start": 157487
        }
      ],
      "hgvs": [
        "NG_013081.2:g.157488G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673632"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8698,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8698,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.5:c.8448+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:n.8448+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.8448+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.8448+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:n.8448+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:n.8448+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8562,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8562,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000681290.1:c.8403+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505288.1:n.8403+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8553,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8553,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.4:c.8448+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:n.8448+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8490,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8490,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.2:c.8448+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:n.8448+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8503,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8503,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.2:c.8403+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.1:n.8403+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8655,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8655,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_011513990.1:c.8448+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512292.1:n.8448+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8655,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8655,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_925598.1:n.8655+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122426"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8573,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8573,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.3:c.8556+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.2:n.8556+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8573,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8573,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009177.1:c.8556+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864666.1:n.8556+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9376,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9376,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009178.1:c.7461+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864667.1:n.7461+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7599,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7599,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009179.2:c.7461+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864668.1:n.7461+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8573,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8573,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009180.1:c.8556+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864669.1:n.8556+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8573,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8573,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009181.1:c.8556+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864670.1:n.8556+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8573,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8573,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009182.1:c.8556+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864671.1:n.8556+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8573,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8573,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009183.1:c.8556+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864672.1:n.8556+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8573,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8573,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009184.1:c.8556+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864673.1:n.8556+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3869,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3869,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009185.1:c.3645+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864674.1:n.3645+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3285,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3285,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009186.1:c.3198+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864675.1:n.3198+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4101,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4101,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009188.1:c.2535+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864677.1:n.2535+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11246,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 11246,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454388.1:c.7461+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310156.1:n.7461+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9888,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9888,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454389.1:c.7050+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310157.1:n.7050+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8573,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8573,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_001742034.1:n.8573+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8573,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8573,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_001742035.1:n.8573+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8698,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8698,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.8448+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:n.8448+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.8448+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.8448+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:n.8448+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:n.8448+1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}