{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2403796243",
  "communityStandardTitle": [
    "NM_002473.6(MYH9):c.5521G= (p.Glu1841=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338834",
        "rs": 80338834
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 36284474,
          "referenceAllele": "C",
          "start": 36284473
        }
      ],
      "hgvs": [
        "NC_000022.11:g.36284474C=",
        "CM000684.2:g.36284474C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 36680520,
          "referenceAllele": "C",
          "start": 36680519
        }
      ],
      "hgvs": [
        "NC_000022.10:g.36680520C=",
        "CM000684.1:g.36680520C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 35010466,
          "referenceAllele": "C",
          "start": 35010465
        }
      ],
      "hgvs": [
        "NC_000022.9:g.35010466C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 108545,
          "referenceAllele": "G",
          "start": 108544
        }
      ],
      "hgvs": [
        "NG_011884.2:g.108545G=",
        "LRG_567:g.108545G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002047"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1954,
          "referenceAllele": "G",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000685708.1:n.1954G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830211"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5798,
          "referenceAllele": "G",
          "start": 5797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000685801.1:c.5584G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510688.1:p.Glu1862="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 857,
          "referenceAllele": "G",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000690244.1:n.857G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5816,
          "referenceAllele": "G",
          "start": 5815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000691109.1:n.5816G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833046"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5701,
          "referenceAllele": "G",
          "start": 5700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000216181.11:c.5521G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216181.6:p.Glu1841="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740281",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216181.11:c.5521G="
          },
          "RefSeq": {
            "hgvs": "NM_002473.6:c.5521G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216181.6:p.Glu1841="
          },
          "RefSeq": {
            "hgvs": "NP_002464.1:p.Glu1841="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5752,
          "referenceAllele": "G",
          "start": 5751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000216181.9:c.5521G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216181.5:p.Glu1841="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 551,
          "referenceAllele": "G",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000475726.5:n.551G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316943"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000486218.1:n.528G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088579848",
      "coordinates": [
        {
          "allele": "G",
          "end": 5801,
          "referenceAllele": "G",
          "start": 5800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "NM_002473.5:c.5521G=",
        "LRG_567t1:c.5521G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002464.1:p.Glu1841="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027775"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5656,
          "referenceAllele": "G",
          "start": 5655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_011530197.1:c.5521G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528499.1:p.Glu1841="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5656,
          "referenceAllele": "G",
          "start": 5655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_011530197.2:c.5521G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528499.1:p.Glu1841="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5556,
          "referenceAllele": "G",
          "start": 5555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028803.1:c.5521G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884292.1:p.Glu1841="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578462"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5556,
          "referenceAllele": "G",
          "start": 5555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028804.1:c.5521G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884293.1:p.Glu1841="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5556,
          "referenceAllele": "G",
          "start": 5555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028805.1:c.5521G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884294.1:p.Glu1841="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578464"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5556,
          "referenceAllele": "G",
          "start": 5555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028806.1:c.5521G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884295.1:p.Glu1841="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088579848",
      "coordinates": [
        {
          "allele": "G",
          "end": 5701,
          "referenceAllele": "G",
          "start": 5700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "NM_002473.6:c.5521G="
      ],
      "proteinEffect": {
        "hgvs": "NP_002464.1:p.Glu1841="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695552",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216181.11:c.5521G="
          },
          "RefSeq": {
            "hgvs": "NM_002473.6:c.5521G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216181.6:p.Glu1841="
          },
          "RefSeq": {
            "hgvs": "NP_002464.1:p.Glu1841="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}