{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA241015",
  "communityStandardTitle": [
    "NM_001277115.2(DNAH11):c.3466G>A (p.Gly1156Arg)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3411920",
        "active": true,
        "id": "COSM3411920"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3411921",
        "active": true,
        "id": "COSM3411921"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=191989[alleleid]",
        "alleleId": 191989,
        "preferredName": "NM_001277115.2(DNAH11):c.3466G>A (p.Gly1156Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/194826",
        "RCV": [
          "RCV000175288",
          "RCV001087376",
          "RCV004539628"
        ],
        "variationId": 194826
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-21641054-G-A",
        "id": "7-21641054-G-A",
        "variant": "7:21641054 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.21641054G>A?assembly=hg19",
        "id": "chr7:g.21641054G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.21601436G>A?assembly=hg38",
        "id": "chr7:g.21601436G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/183521702",
        "rs": 183521702
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-21641054-G-A?dataset=gnomad_r2_1",
        "id": "7-21641054-G-A",
        "variant": "7:21641054 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-21601436-G-A?dataset=gnomad_r3",
        "id": "7-21601436-G-A",
        "variant": "7:21601436 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-21601436-G-A?dataset=gnomad_r4",
        "id": "7-21601436-G-A",
        "variant": "7:21601436 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 21601436,
          "referenceAllele": "G",
          "start": 21601435
        }
      ],
      "hgvs": [
        "NC_000007.14:g.21601436G>A",
        "CM000669.2:g.21601436G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 21641054,
          "referenceAllele": "G",
          "start": 21641053
        }
      ],
      "hgvs": [
        "NC_000007.13:g.21641054G>A",
        "CM000669.1:g.21641054G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 21607579,
          "referenceAllele": "G",
          "start": 21607578
        }
      ],
      "hgvs": [
        "NC_000007.12:g.21607579G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 63222,
          "referenceAllele": "G",
          "start": 63221
        }
      ],
      "hgvs": [
        "NG_012886.2:g.63222G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002609"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3673,
          "referenceAllele": "G",
          "start": 3672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000409508.8:c.3466G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475939.1:p.Gly1156Arg",
        "hgvsWellDefined": "ENSP00000475939.1:p.Gly1156Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754305",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409508.8:c.3466G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001277115.2:c.3466G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000475939.1:p.Gly1156Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001264044.1:p.Gly1156Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3497,
          "referenceAllele": "G",
          "start": 3496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000328843.10:c.3466G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330671.7:p.Gly1156Arg",
        "hgvsWellDefined": "ENSP00000330671.7:p.Gly1156Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3497,
          "referenceAllele": "G",
          "start": 3496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000409508.7:c.3466G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475939.1:p.Gly1156Arg",
        "hgvsWellDefined": "ENSP00000475939.1:p.Gly1156Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3497,
          "referenceAllele": "G",
          "start": 3496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000620169.4:c.3466G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481693.1:p.Gly1156Arg",
        "hgvsWellDefined": "ENSP00000481693.1:p.Gly1156Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA241016",
      "coordinates": [
        {
          "allele": "A",
          "end": 3497,
          "referenceAllele": "G",
          "start": 3496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "NM_001277115.1:c.3466G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264044.1:p.Gly1156Arg",
        "hgvsWellDefined": "NP_001264044.1:p.Gly1156Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020967"
    },
    {
      "@id": "http://reg.genome.network/allele/PA241016",
      "coordinates": [
        {
          "allele": "A",
          "end": 3673,
          "referenceAllele": "G",
          "start": 3672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "NM_001277115.2:c.3466G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264044.1:p.Gly1156Arg",
        "hgvsWellDefined": "NP_001264044.1:p.Gly1156Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664162",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409508.8:c.3466G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001277115.2:c.3466G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000475939.1:p.Gly1156Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001264044.1:p.Gly1156Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}