{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10209226",
  "communityStandardTitle": [
    "NM_002473.6(MYH9):c.4955G>A (p.Arg1652His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=351527[alleleid]",
        "alleleId": 351527,
        "preferredName": "NM_002473.6(MYH9):c.4955G>A (p.Arg1652His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/341497",
        "RCV": [
          "RCV000283777",
          "RCV000378271",
          "RCV002524453"
        ],
        "variationId": 341497
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-36682870-C-T",
        "id": "22-36682870-C-T",
        "variant": "22:36682870 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.36682870C>T?assembly=hg19",
        "id": "chr22:g.36682870C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.36286824C>T?assembly=hg38",
        "id": "chr22:g.36286824C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/779135945",
        "rs": 779135945
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-36682870-C-T?dataset=gnomad_r2_1",
        "id": "22-36682870-C-T",
        "variant": "22:36682870 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-36286824-C-T?dataset=gnomad_r3",
        "id": "22-36286824-C-T",
        "variant": "22:36286824 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-36286824-C-T?dataset=gnomad_r4",
        "id": "22-36286824-C-T",
        "variant": "22:36286824 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 36286824,
          "referenceAllele": "C",
          "start": 36286823
        }
      ],
      "hgvs": [
        "NC_000022.11:g.36286824C>T",
        "CM000684.2:g.36286824C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 36682870,
          "referenceAllele": "C",
          "start": 36682869
        }
      ],
      "hgvs": [
        "NC_000022.10:g.36682870C>T",
        "CM000684.1:g.36682870C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 35012816,
          "referenceAllele": "C",
          "start": 35012815
        }
      ],
      "hgvs": [
        "NC_000022.9:g.35012816C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106195,
          "referenceAllele": "G",
          "start": 106194
        }
      ],
      "hgvs": [
        "NG_011884.2:g.106195G>A",
        "LRG_567:g.106195G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002047"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000685708.1:n.1388G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5232,
          "referenceAllele": "G",
          "start": 5231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000685801.1:c.5018G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510688.1:p.Arg1673His",
        "hgvsWellDefined": "ENSP00000510688.1:p.Arg1673His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5250,
          "referenceAllele": "G",
          "start": 5249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000691109.1:n.5250G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5135,
          "referenceAllele": "G",
          "start": 5134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000216181.11:c.4955G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216181.6:p.Arg1652His",
        "hgvsWellDefined": "ENSP00000216181.6:p.Arg1652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740281",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216181.11:c.4955G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002473.6:c.4955G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216181.6:p.Arg1652His"
          },
          "RefSeq": {
            "hgvs": "NP_002464.1:p.Arg1652His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5186,
          "referenceAllele": "G",
          "start": 5185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000216181.9:c.4955G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216181.5:p.Arg1652His",
        "hgvsWellDefined": "ENSP00000216181.5:p.Arg1652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645294957",
      "coordinates": [
        {
          "allele": "A",
          "end": 5235,
          "referenceAllele": "G",
          "start": 5234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "NM_002473.5:c.4955G>A",
        "LRG_567t1:c.4955G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002464.1:p.Arg1652His",
        "hgvsWellDefined": "NP_002464.1:p.Arg1652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027775"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5090,
          "referenceAllele": "G",
          "start": 5089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_011530197.1:c.4955G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528499.1:p.Arg1652His",
        "hgvsWellDefined": "XP_011528499.1:p.Arg1652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5090,
          "referenceAllele": "G",
          "start": 5089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_011530197.2:c.4955G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528499.1:p.Arg1652His",
        "hgvsWellDefined": "XP_011528499.1:p.Arg1652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4990,
          "referenceAllele": "G",
          "start": 4989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028803.1:c.4955G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884292.1:p.Arg1652His",
        "hgvsWellDefined": "XP_016884292.1:p.Arg1652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578462"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4990,
          "referenceAllele": "G",
          "start": 4989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028804.1:c.4955G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884293.1:p.Arg1652His",
        "hgvsWellDefined": "XP_016884293.1:p.Arg1652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4990,
          "referenceAllele": "G",
          "start": 4989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028805.1:c.4955G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884294.1:p.Arg1652His",
        "hgvsWellDefined": "XP_016884294.1:p.Arg1652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578464"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4990,
          "referenceAllele": "G",
          "start": 4989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028806.1:c.4955G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884295.1:p.Arg1652His",
        "hgvsWellDefined": "XP_016884295.1:p.Arg1652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645294957",
      "coordinates": [
        {
          "allele": "A",
          "end": 5135,
          "referenceAllele": "G",
          "start": 5134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "NM_002473.6:c.4955G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002464.1:p.Arg1652His",
        "hgvsWellDefined": "NP_002464.1:p.Arg1652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695552",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216181.11:c.4955G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002473.6:c.4955G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216181.6:p.Arg1652His"
          },
          "RefSeq": {
            "hgvs": "NP_002464.1:p.Arg1652His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}