{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA175740",
  "communityStandardTitle": [
    "NM_001277115.2(DNAH11):c.8990G>A (p.Arg2997Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM1165265"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=174204[alleleid]",
        "alleleId": 174204,
        "preferredName": "NM_001277115.2(DNAH11):c.8990G>A (p.Arg2997Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/163116",
        "RCV": [
          "RCV000150447",
          "RCV000230982",
          "RCV001705980",
          "RCV001729408"
        ],
        "variationId": 163116
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-21805095-G-A",
        "id": "7-21805095-G-A",
        "variant": "7:21805095 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.21805095G>A?assembly=hg19",
        "id": "chr7:g.21805095G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.21765477G>A?assembly=hg38",
        "id": "chr7:g.21765477G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/35865357",
        "rs": 35865357
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-21805095-G-A?dataset=gnomad_r2_1",
        "id": "7-21805095-G-A",
        "variant": "7:21805095 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-21765477-G-A?dataset=gnomad_r3",
        "id": "7-21765477-G-A",
        "variant": "7:21765477 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-21765477-G-A?dataset=gnomad_r4",
        "id": "7-21765477-G-A",
        "variant": "7:21765477 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 21765477,
          "referenceAllele": "G",
          "start": 21765476
        }
      ],
      "hgvs": [
        "NC_000007.14:g.21765477G>A",
        "CM000669.2:g.21765477G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 21805095,
          "referenceAllele": "G",
          "start": 21805094
        }
      ],
      "hgvs": [
        "NC_000007.13:g.21805095G>A",
        "CM000669.1:g.21805095G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 21771620,
          "referenceAllele": "G",
          "start": 21771619
        }
      ],
      "hgvs": [
        "NC_000007.12:g.21771620G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 227263,
          "referenceAllele": "G",
          "start": 227262
        }
      ],
      "hgvs": [
        "NG_012886.2:g.227263G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002609"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9197,
          "referenceAllele": "G",
          "start": 9196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000409508.8:c.8990G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475939.1:p.Arg2997Gln",
        "hgvsWellDefined": "ENSP00000475939.1:p.Arg2997Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754305",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409508.8:c.8990G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001277115.2:c.8990G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000475939.1:p.Arg2997Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001264044.1:p.Arg2997Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9042,
          "referenceAllele": "G",
          "start": 9041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000328843.10:c.9011G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330671.7:p.Arg3004Gln",
        "hgvsWellDefined": "ENSP00000330671.7:p.Arg3004Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9021,
          "referenceAllele": "G",
          "start": 9020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000409508.7:c.8990G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475939.1:p.Arg2997Gln",
        "hgvsWellDefined": "ENSP00000475939.1:p.Arg2997Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9042,
          "referenceAllele": "G",
          "start": 9041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000620169.4:c.9011G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481693.1:p.Arg3004Gln",
        "hgvsWellDefined": "ENSP00000481693.1:p.Arg3004Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113495",
      "coordinates": [
        {
          "allele": "A",
          "end": 9021,
          "referenceAllele": "G",
          "start": 9020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "NM_001277115.1:c.8990G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264044.1:p.Arg2997Gln",
        "hgvsWellDefined": "NP_001264044.1:p.Arg2997Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020967"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113495",
      "coordinates": [
        {
          "allele": "A",
          "end": 9197,
          "referenceAllele": "G",
          "start": 9196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "NM_001277115.2:c.8990G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264044.1:p.Arg2997Gln",
        "hgvsWellDefined": "NP_001264044.1:p.Arg2997Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664162",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409508.8:c.8990G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001277115.2:c.8990G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000475939.1:p.Arg2997Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001264044.1:p.Arg2997Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}