{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10209269",
  "communityStandardTitle": [
    "NM_002473.6(MYH9):c.4855C>T (p.Leu1619=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=891218[alleleid]",
        "alleleId": 891218,
        "preferredName": "NM_002473.6(MYH9):c.4855C>T (p.Leu1619=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/902577",
        "RCV": [
          "RCV001149226",
          "RCV001149225"
        ],
        "variationId": 902577
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-36684375-G-A",
        "id": "22-36684375-G-A",
        "variant": "22:36684375 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.36684375G>A?assembly=hg19",
        "id": "chr22:g.36684375G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.36288329G>A?assembly=hg38",
        "id": "chr22:g.36288329G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/778679056",
        "rs": 778679056
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-36684375-G-A?dataset=gnomad_r2_1",
        "id": "22-36684375-G-A",
        "variant": "22:36684375 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-36288329-G-A?dataset=gnomad_r4",
        "id": "22-36288329-G-A",
        "variant": "22:36288329 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 36288329,
          "referenceAllele": "G",
          "start": 36288328
        }
      ],
      "hgvs": [
        "NC_000022.11:g.36288329G>A",
        "CM000684.2:g.36288329G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 36684375,
          "referenceAllele": "G",
          "start": 36684374
        }
      ],
      "hgvs": [
        "NC_000022.10:g.36684375G>A",
        "CM000684.1:g.36684375G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 35014321,
          "referenceAllele": "G",
          "start": 35014320
        }
      ],
      "hgvs": [
        "NC_000022.9:g.35014321G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 104690,
          "referenceAllele": "C",
          "start": 104689
        }
      ],
      "hgvs": [
        "NG_011884.2:g.104690C>T",
        "LRG_567:g.104690C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002047"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5132,
          "referenceAllele": "C",
          "start": 5131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000685801.1:c.4918C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510688.1:p.Leu1640="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5150,
          "referenceAllele": "C",
          "start": 5149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000691109.1:n.5150C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5035,
          "referenceAllele": "C",
          "start": 5034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000216181.11:c.4855C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216181.6:p.Leu1619="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740281",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216181.11:c.4855C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002473.6:c.4855C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216181.6:p.Leu1619="
          },
          "RefSeq": {
            "hgvs": "NP_002464.1:p.Leu1619="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5086,
          "referenceAllele": "C",
          "start": 5085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000216181.9:c.4855C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216181.5:p.Leu1619="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829394011",
      "coordinates": [
        {
          "allele": "T",
          "end": 5135,
          "referenceAllele": "C",
          "start": 5134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "NM_002473.5:c.4855C>T",
        "LRG_567t1:c.4855C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002464.1:p.Leu1619="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027775"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4990,
          "referenceAllele": "C",
          "start": 4989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_011530197.1:c.4855C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528499.1:p.Leu1619="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4990,
          "referenceAllele": "C",
          "start": 4989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_011530197.2:c.4855C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528499.1:p.Leu1619="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4890,
          "referenceAllele": "C",
          "start": 4889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028803.1:c.4855C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884292.1:p.Leu1619="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4890,
          "referenceAllele": "C",
          "start": 4889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028804.1:c.4855C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884293.1:p.Leu1619="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4890,
          "referenceAllele": "C",
          "start": 4889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028805.1:c.4855C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884294.1:p.Leu1619="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578464"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4890,
          "referenceAllele": "C",
          "start": 4889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028806.1:c.4855C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884295.1:p.Leu1619="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829394011",
      "coordinates": [
        {
          "allele": "T",
          "end": 5035,
          "referenceAllele": "C",
          "start": 5034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "NM_002473.6:c.4855C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002464.1:p.Leu1619="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695552",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216181.11:c.4855C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002473.6:c.4855C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216181.6:p.Leu1619="
          },
          "RefSeq": {
            "hgvs": "NP_002464.1:p.Leu1619="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}