{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3790809",
  "communityStandardTitle": [
    "NM_001206927.2(DNAH8):c.10685C>T (p.Thr3562Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5061761",
        "active": true,
        "id": "COSM5061761"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5061762",
        "active": true,
        "id": "COSM5061762"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5061763",
        "active": true,
        "id": "COSM5061763"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=455615[alleleid]",
        "alleleId": 455615,
        "preferredName": "NM_001206927.2(DNAH8):c.10685C>T (p.Thr3562Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/454537",
        "RCV": [
          "RCV000529121",
          "RCV003960244",
          "RCV004023700"
        ],
        "variationId": 454537
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-38890856-C-T",
        "id": "6-38890856-C-T",
        "variant": "6:38890856 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.38890856C>T?assembly=hg19",
        "id": "chr6:g.38890856C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.38923080C>T?assembly=hg38",
        "id": "chr6:g.38923080C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/373914023",
        "rs": 373914023
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-38890856-C-T?dataset=gnomad_r2_1",
        "id": "6-38890856-C-T",
        "variant": "6:38890856 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-38923080-C-T?dataset=gnomad_r3",
        "id": "6-38923080-C-T",
        "variant": "6:38923080 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-38923080-C-T?dataset=gnomad_r4",
        "id": "6-38923080-C-T",
        "variant": "6:38923080 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 38923080,
          "referenceAllele": "C",
          "start": 38923079
        }
      ],
      "hgvs": [
        "NC_000006.12:g.38923080C>T",
        "CM000668.2:g.38923080C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 38890856,
          "referenceAllele": "C",
          "start": 38890855
        }
      ],
      "hgvs": [
        "NC_000006.11:g.38890856C>T",
        "CM000668.1:g.38890856C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 38998834,
          "referenceAllele": "C",
          "start": 38998833
        }
      ],
      "hgvs": [
        "NC_000006.10:g.38998834C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 212740,
          "referenceAllele": "C",
          "start": 212739
        }
      ],
      "hgvs": [
        "NG_041805.1:g.212740C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005875"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10824,
          "referenceAllele": "C",
          "start": 10823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "ENST00000327475.11:c.10685C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333363.7:p.Thr3562Met",
        "hgvsWellDefined": "ENSP00000333363.7:p.Thr3562Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327475.11:c.10685C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001206927.2:c.10685C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333363.7:p.Thr3562Met"
          },
          "RefSeq": {
            "hgvs": "NP_001193856.1:p.Thr3562Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10794,
          "referenceAllele": "C",
          "start": 10793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "ENST00000327475.10:c.10685C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333363.7:p.Thr3562Met",
        "hgvsWellDefined": "ENSP00000333363.7:p.Thr3562Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10288,
          "referenceAllele": "C",
          "start": 10287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "ENST00000359357.7:c.10034C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352312.3:p.Thr3345Met",
        "hgvsWellDefined": "ENSP00000352312.3:p.Thr3345Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10685,
          "referenceAllele": "C",
          "start": 10684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "ENST00000449981.6:c.10685C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415331.2:p.Thr3562Met",
        "hgvsWellDefined": "ENSP00000415331.2:p.Thr3562Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300483"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658663794",
      "coordinates": [
        {
          "allele": "T",
          "end": 10794,
          "referenceAllele": "C",
          "start": 10793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "NM_001206927.1:c.10685C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193856.1:p.Thr3562Met",
        "hgvsWellDefined": "NP_001193856.1:p.Thr3562Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 782,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 782,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040188",
      "geneNCBI_id": 100131047,
      "geneSymbol": "DNAH8-AS1",
      "hgvs": [
        "NR_038401.1:n.782+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050448"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10739,
          "referenceAllele": "C",
          "start": 10738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "XM_011514318.1:c.10622C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512620.1:p.Thr3541Met",
        "hgvsWellDefined": "XP_011512620.1:p.Thr3541Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10694,
          "referenceAllele": "C",
          "start": 10693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "XM_011514319.1:c.10577C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512621.1:p.Thr3526Met",
        "hgvsWellDefined": "XP_011512621.1:p.Thr3526Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10565,
          "referenceAllele": "C",
          "start": 10564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "XM_011514320.1:c.10448C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512622.1:p.Thr3483Met",
        "hgvsWellDefined": "XP_011512622.1:p.Thr3483Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10152,
          "referenceAllele": "C",
          "start": 10151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "XM_011514321.1:c.10034C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512623.1:p.Thr3345Met",
        "hgvsWellDefined": "XP_011512623.1:p.Thr3345Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10802,
          "referenceAllele": "C",
          "start": 10801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "XR_926078.1:n.10802C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122763"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828550640",
      "coordinates": [
        {
          "allele": "T",
          "end": 10709,
          "referenceAllele": "C",
          "start": 10708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "NM_001371.3:c.10034C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362.2:p.Thr3345Met",
        "hgvsWellDefined": "NP_001362.2:p.Thr3345Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524865"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10742,
          "referenceAllele": "C",
          "start": 10741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "XM_011514318.2:c.10622C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512620.1:p.Thr3541Met",
        "hgvsWellDefined": "XP_011512620.1:p.Thr3541Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543269"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10697,
          "referenceAllele": "C",
          "start": 10696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "XM_011514319.2:c.10577C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512621.1:p.Thr3526Met",
        "hgvsWellDefined": "XP_011512621.1:p.Thr3526Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10568,
          "referenceAllele": "C",
          "start": 10567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "XM_011514320.2:c.10448C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512622.1:p.Thr3483Met",
        "hgvsWellDefined": "XP_011512622.1:p.Thr3483Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543271"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10805,
          "referenceAllele": "C",
          "start": 10804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "XM_017010325.1:c.10685C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865814.1:p.Thr3562Met",
        "hgvsWellDefined": "XP_016865814.1:p.Thr3562Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10805,
          "referenceAllele": "C",
          "start": 10804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "XM_017010326.1:c.10685C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865815.1:p.Thr3562Met",
        "hgvsWellDefined": "XP_016865815.1:p.Thr3562Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10805,
          "referenceAllele": "C",
          "start": 10804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "XR_926078.2:n.10805C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658663794",
      "coordinates": [
        {
          "allele": "T",
          "end": 10824,
          "referenceAllele": "C",
          "start": 10823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "NM_001206927.2:c.10685C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193856.1:p.Thr3562Met",
        "hgvsWellDefined": "NP_001193856.1:p.Thr3562Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679972",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327475.11:c.10685C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001206927.2:c.10685C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333363.7:p.Thr3562Met"
          },
          "RefSeq": {
            "hgvs": "NP_001193856.1:p.Thr3562Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828550640",
      "coordinates": [
        {
          "allele": "T",
          "end": 10739,
          "referenceAllele": "C",
          "start": 10738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002952",
      "geneNCBI_id": 1769,
      "geneSymbol": "DNAH8",
      "hgvs": [
        "NM_001371.4:c.10034C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362.2:p.Thr3345Met",
        "hgvsWellDefined": "NP_001362.2:p.Thr3345Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692613"
    }
  ],
  "type": "nucleotide"
}