{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA175737",
  "communityStandardTitle": [
    "NM_001277115.2(DNAH11):c.8798-5G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=174069[alleleid]",
        "alleleId": 174069,
        "preferredName": "NM_001277115.2(DNAH11):c.8798-5G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/163114",
        "RCV": [
          "RCV000150445",
          "RCV000234300",
          "RCV003436958",
          "RCV003615820"
        ],
        "variationId": 163114
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-21789835-G-A",
        "id": "7-21789835-G-A",
        "variant": "7:21789835 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.21789835G>A?assembly=hg19",
        "id": "chr7:g.21789835G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.21750217G>A?assembly=hg38",
        "id": "chr7:g.21750217G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/189821372",
        "rs": 189821372
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-21789835-G-A?dataset=gnomad_r2_1",
        "id": "7-21789835-G-A",
        "variant": "7:21789835 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-21750217-G-A?dataset=gnomad_r3",
        "id": "7-21750217-G-A",
        "variant": "7:21750217 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-21750217-G-A?dataset=gnomad_r4",
        "id": "7-21750217-G-A",
        "variant": "7:21750217 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 21750217,
          "referenceAllele": "G",
          "start": 21750216
        }
      ],
      "hgvs": [
        "NC_000007.14:g.21750217G>A",
        "CM000669.2:g.21750217G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 21789835,
          "referenceAllele": "G",
          "start": 21789834
        }
      ],
      "hgvs": [
        "NC_000007.13:g.21789835G>A",
        "CM000669.1:g.21789835G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 21756360,
          "referenceAllele": "G",
          "start": 21756359
        }
      ],
      "hgvs": [
        "NC_000007.12:g.21756360G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 212003,
          "referenceAllele": "G",
          "start": 212002
        }
      ],
      "hgvs": [
        "NG_012886.2:g.212003G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002609"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9004,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "G",
          "start": 9004,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000409508.8:c.8798-5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475939.1:n.8798-5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754305",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409508.8:c.8798-5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001277115.2:c.8798-5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000475939.1:n.8798-5G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001264044.1:n.8798-5G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8849,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "G",
          "start": 8849,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000328843.10:c.8819-5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330671.7:n.8819-5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8828,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "G",
          "start": 8828,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000409508.7:c.8798-5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475939.1:n.8798-5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8849,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "G",
          "start": 8849,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000620169.4:c.8819-5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481693.1:n.8819-5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404703"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8828,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "G",
          "start": 8828,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "NM_001277115.1:c.8798-5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264044.1:n.8798-5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9004,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "G",
          "start": 9004,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "NM_001277115.2:c.8798-5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264044.1:n.8798-5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664162",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409508.8:c.8798-5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001277115.2:c.8798-5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000475939.1:n.8798-5G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001264044.1:n.8798-5G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}