{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5184268",
  "communityStandardTitle": [
    "NM_005592.4(MUSK):c.1057C>A (p.His353Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=637626[alleleid]",
        "alleleId": 637626,
        "preferredName": "NM_005592.4(MUSK):c.1057C>A (p.His353Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/659137",
        "RCV": [
          "RCV000816090",
          "RCV003132089"
        ],
        "variationId": 659137
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-113530236-C-A",
        "id": "9-113530236-C-A",
        "variant": "9:113530236 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.113530236C>A?assembly=hg19",
        "id": "chr9:g.113530236C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.110767956C>A?assembly=hg38",
        "id": "chr9:g.110767956C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201791900",
        "rs": 201791900
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-113530236-C-A?dataset=gnomad_r2_1",
        "id": "9-113530236-C-A",
        "variant": "9:113530236 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-110767956-C-A?dataset=gnomad_r3",
        "id": "9-110767956-C-A",
        "variant": "9:110767956 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-110767956-C-A?dataset=gnomad_r4",
        "id": "9-110767956-C-A",
        "variant": "9:110767956 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 110767956,
          "referenceAllele": "C",
          "start": 110767955
        }
      ],
      "hgvs": [
        "NC_000009.12:g.110767956C>A",
        "CM000671.2:g.110767956C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 113530236,
          "referenceAllele": "C",
          "start": 113530235
        }
      ],
      "hgvs": [
        "NC_000009.11:g.113530236C>A",
        "CM000671.1:g.113530236C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 112570057,
          "referenceAllele": "C",
          "start": 112570056
        }
      ],
      "hgvs": [
        "NC_000009.10:g.112570057C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 104186,
          "referenceAllele": "C",
          "start": 104185
        }
      ],
      "hgvs": [
        "NG_016016.1:g.104186C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 104166,
          "referenceAllele": "C",
          "start": 104165
        }
      ],
      "hgvs": [
        "NG_016016.2:g.104166C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706116"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000374448.9:c.1057C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363571.4:p.His353Asn",
        "hgvsWellDefined": "ENSP00000363571.4:p.His353Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751439",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374448.9:c.1057C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005592.4:c.1057C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363571.4:p.His353Asn"
          },
          "RefSeq": {
            "hgvs": "NP_005583.1:p.His353Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 996,
          "endIntronDirection": "+",
          "endIntronOffset": 5748,
          "referenceAllele": "C",
          "start": 996,
          "startIntronDirection": "+",
          "startIntronOffset": 5747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000189978.10:c.950+5748C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000189978.6:n.950+5748C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 989,
          "endIntronDirection": "-",
          "endIntronOffset": 7824,
          "referenceAllele": "C",
          "start": 989,
          "startIntronDirection": "-",
          "startIntronOffset": 7825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000374440.7:c.944-7825C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363563.4:n.944-7825C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1191,
          "referenceAllele": "C",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000374448.8:c.1057C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363571.4:p.His353Asn",
        "hgvsWellDefined": "ENSP00000363571.4:p.His353Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270249"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1183,
          "referenceAllele": "C",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000416899.7:c.1057C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393608.3:p.His353Asn",
        "hgvsWellDefined": "ENSP00000393608.3:p.His353Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 479,
          "referenceAllele": "C",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000634612.1:n.479C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407883"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1084,
          "endIntronDirection": "+",
          "endIntronOffset": 5748,
          "referenceAllele": "C",
          "start": 1084,
          "startIntronDirection": "+",
          "startIntronOffset": 5747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166280.1:c.950+5748C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159752.1:n.950+5748C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1054,
          "endIntronDirection": "+",
          "endIntronOffset": 5748,
          "referenceAllele": "C",
          "start": 1054,
          "startIntronDirection": "+",
          "startIntronOffset": 5747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166281.1:c.920+5748C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159753.1:n.920+5748C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014858"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916002232",
      "coordinates": [
        {
          "allele": "A",
          "end": 1191,
          "referenceAllele": "C",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_005592.3:c.1057C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005583.1:p.His353Asn",
        "hgvsWellDefined": "NP_005583.1:p.His353Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030680"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1447,
          "referenceAllele": "C",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251994.2:c.1087C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252051.1:p.His363Asn",
        "hgvsWellDefined": "XP_005252051.1:p.His363Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059776"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1446,
          "referenceAllele": "C",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251995.2:c.1087C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252052.1:p.His363Asn",
        "hgvsWellDefined": "XP_005252052.1:p.His363Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059777"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1416,
          "referenceAllele": "C",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251996.2:c.1057C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252053.1:p.His353Asn",
        "hgvsWellDefined": "XP_005252053.1:p.His353Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059778"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_011518707.1:c.1117C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517009.1:p.His373Asn",
        "hgvsWellDefined": "XP_011517009.1:p.His373Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 63,
          "endIntronDirection": "-",
          "endIntronOffset": 7831,
          "referenceAllele": "C",
          "start": 63,
          "startIntronDirection": "-",
          "startIntronOffset": 7832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_011518708.1:c.-52-7832C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517010.1:n.-52-7832C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085882"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1803,
          "referenceAllele": "C",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251994.3:c.1087C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252051.1:p.His363Asn",
        "hgvsWellDefined": "XP_005252051.1:p.His363Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1802,
          "referenceAllele": "C",
          "start": 1801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251995.3:c.1087C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252052.1:p.His363Asn",
        "hgvsWellDefined": "XP_005252052.1:p.His363Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1771,
          "referenceAllele": "C",
          "start": 1770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251996.3:c.1057C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252053.1:p.His353Asn",
        "hgvsWellDefined": "XP_005252053.1:p.His353Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 63,
          "endIntronDirection": "-",
          "endIntronOffset": 7831,
          "referenceAllele": "C",
          "start": 63,
          "startIntronDirection": "-",
          "startIntronOffset": 7832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_011518708.2:c.-52-7832C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517010.1:n.-52-7832C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1666,
          "endIntronDirection": "+",
          "endIntronOffset": 5748,
          "referenceAllele": "C",
          "start": 1666,
          "startIntronDirection": "+",
          "startIntronOffset": 5747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_017014734.1:c.950+5748C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870223.1:n.950+5748C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 288,
          "endIntronDirection": "-",
          "endIntronOffset": 3118,
          "referenceAllele": "G",
          "start": 288,
          "startIntronDirection": "-",
          "startIntronOffset": 3119
        }
      ],
      "hgvs": [
        "XR_001746892.1:n.289-3119G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1064,
          "endIntronDirection": "+",
          "endIntronOffset": 5748,
          "referenceAllele": "C",
          "start": 1064,
          "startIntronDirection": "+",
          "startIntronOffset": 5747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166280.2:c.950+5748C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159752.1:n.950+5748C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "endIntronDirection": "+",
          "endIntronOffset": 5748,
          "referenceAllele": "C",
          "start": 1034,
          "startIntronDirection": "+",
          "startIntronOffset": 5747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166281.2:c.920+5748C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159753.1:n.920+5748C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 463,
          "referenceAllele": "C",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001369398.1:c.-180C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356327.1:n.-180C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916002232",
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_005592.4:c.1057C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005583.1:p.His353Asn",
        "hgvsWellDefined": "NP_005583.1:p.His353Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374448.9:c.1057C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005592.4:c.1057C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363571.4:p.His353Asn"
          },
          "RefSeq": {
            "hgvs": "NP_005583.1:p.His353Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}