{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5183978",
  "communityStandardTitle": [
    "NM_005592.4(MUSK):c.300G>A (p.Thr100=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=459231[alleleid]",
        "alleleId": 459231,
        "preferredName": "NM_005592.4(MUSK):c.300G>A (p.Thr100=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/476145",
        "RCV": [
          "RCV000549218",
          "RCV000605686",
          "RCV001166858"
        ],
        "variationId": 476145
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-113449490-G-A",
        "id": "9-113449490-G-A",
        "variant": "9:113449490 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.113449490G>A?assembly=hg19",
        "id": "chr9:g.113449490G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.110687210G>A?assembly=hg38",
        "id": "chr9:g.110687210G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/180928221",
        "rs": 180928221
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-113449490-G-A?dataset=gnomad_r2_1",
        "id": "9-113449490-G-A",
        "variant": "9:113449490 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-110687210-G-A?dataset=gnomad_r3",
        "id": "9-110687210-G-A",
        "variant": "9:110687210 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-110687210-G-A?dataset=gnomad_r4",
        "id": "9-110687210-G-A",
        "variant": "9:110687210 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 110687210,
          "referenceAllele": "G",
          "start": 110687209
        }
      ],
      "hgvs": [
        "NC_000009.12:g.110687210G>A",
        "CM000671.2:g.110687210G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 113449490,
          "referenceAllele": "G",
          "start": 113449489
        }
      ],
      "hgvs": [
        "NC_000009.11:g.113449490G>A",
        "CM000671.1:g.113449490G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 112489311,
          "referenceAllele": "G",
          "start": 112489310
        }
      ],
      "hgvs": [
        "NC_000009.10:g.112489311G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23440,
          "referenceAllele": "G",
          "start": 23439
        }
      ],
      "hgvs": [
        "NG_016016.1:g.23440G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23420,
          "referenceAllele": "G",
          "start": 23419
        }
      ],
      "hgvs": [
        "NG_016016.2:g.23420G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706116"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "referenceAllele": "G",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000374448.9:c.300G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363571.4:p.Thr100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751439",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374448.9:c.300G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005592.4:c.300G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363571.4:p.Thr100="
          },
          "RefSeq": {
            "hgvs": "NP_005583.1:p.Thr100="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 346,
          "referenceAllele": "G",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000189978.10:c.300G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000189978.6:p.Thr100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 346,
          "referenceAllele": "G",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000374440.7:c.300G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363563.4:p.Thr100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 434,
          "referenceAllele": "G",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000374448.8:c.300G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363571.4:p.Thr100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270249"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "referenceAllele": "G",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000416899.7:c.300G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393608.3:p.Thr100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826028974",
      "coordinates": [
        {
          "allele": "A",
          "end": 434,
          "referenceAllele": "G",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166280.1:c.300G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159752.1:p.Thr100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826029410",
      "coordinates": [
        {
          "allele": "A",
          "end": 434,
          "referenceAllele": "G",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166281.1:c.300G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159753.1:p.Thr100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014858"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829607539",
      "coordinates": [
        {
          "allele": "A",
          "end": 434,
          "referenceAllele": "G",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_005592.3:c.300G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005583.1:p.Thr100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030680"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 660,
          "referenceAllele": "G",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251994.2:c.300G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252051.1:p.Thr100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059776"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 659,
          "referenceAllele": "G",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251995.2:c.300G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252052.1:p.Thr100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059777"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 659,
          "referenceAllele": "G",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251996.2:c.300G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252053.1:p.Thr100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059778"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 660,
          "referenceAllele": "G",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_011518707.1:c.300G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517009.1:p.Thr100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1016,
          "referenceAllele": "G",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251994.3:c.300G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252051.1:p.Thr100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1015,
          "referenceAllele": "G",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251995.3:c.300G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252052.1:p.Thr100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1014,
          "referenceAllele": "G",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251996.3:c.300G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252053.1:p.Thr100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1016,
          "referenceAllele": "G",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_017014734.1:c.300G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870223.1:p.Thr100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567617"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826028974",
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "referenceAllele": "G",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166280.2:c.300G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159752.1:p.Thr100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826029410",
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "referenceAllele": "G",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166281.2:c.300G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159753.1:p.Thr100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678483"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829607539",
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "referenceAllele": "G",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_005592.4:c.300G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005583.1:p.Thr100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374448.9:c.300G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005592.4:c.300G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363571.4:p.Thr100="
          },
          "RefSeq": {
            "hgvs": "NP_005583.1:p.Thr100="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}