{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9593782",
  "communityStandardTitle": [
    "NM_001145809.2(MYH14):c.5384G>A (p.Arg1795His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=882390[alleleid]",
        "alleleId": 882390,
        "preferredName": "NM_001145809.2(MYH14):c.5384G>A (p.Arg1795His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/892933",
        "RCV": [
          "RCV001129869",
          "RCV002505705"
        ],
        "variationId": 892933
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-50796859-G-A",
        "id": "19-50796859-G-A",
        "variant": "19:50796859 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.50796859G>A?assembly=hg19",
        "id": "chr19:g.50796859G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.50293602G>A?assembly=hg38",
        "id": "chr19:g.50293602G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/567922009",
        "rs": 567922009
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-50796859-G-A?dataset=gnomad_r2_1",
        "id": "19-50796859-G-A",
        "variant": "19:50796859 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-50293602-G-A?dataset=gnomad_r3",
        "id": "19-50293602-G-A",
        "variant": "19:50293602 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-50293602-G-A?dataset=gnomad_r4",
        "id": "19-50293602-G-A",
        "variant": "19:50293602 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 50293602,
          "referenceAllele": "G",
          "start": 50293601
        }
      ],
      "hgvs": [
        "NC_000019.10:g.50293602G>A",
        "CM000681.2:g.50293602G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 50796859,
          "referenceAllele": "G",
          "start": 50796858
        }
      ],
      "hgvs": [
        "NC_000019.9:g.50796859G>A",
        "CM000681.1:g.50796859G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 55488671,
          "referenceAllele": "G",
          "start": 55488670
        }
      ],
      "hgvs": [
        "NC_000019.8:g.55488671G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 94975,
          "referenceAllele": "G",
          "start": 94974
        }
      ],
      "hgvs": [
        "NG_011645.1:g.94975G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001879"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5338,
          "referenceAllele": "G",
          "start": 5337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "ENST00000425460.6:c.5285G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407879.1:p.Arg1762His",
        "hgvsWellDefined": "ENSP00000407879.1:p.Arg1762His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5437,
          "referenceAllele": "G",
          "start": 5436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "ENST00000642316.2:c.5384G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493594.1:p.Arg1795His",
        "hgvsWellDefined": "ENSP00000493594.1:p.Arg1795His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766676",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642316.2:c.5384G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001145809.2:c.5384G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493594.1:p.Arg1795His"
          },
          "RefSeq": {
            "hgvs": "NP_001139281.1:p.Arg1795His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2372,
          "referenceAllele": "G",
          "start": 2371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "ENST00000262269.12:c.*745G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262269.9:n.*745G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250972"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5308,
          "referenceAllele": "G",
          "start": 5307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "ENST00000376970.6:c.5261G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366169.3:p.Arg1754His",
        "hgvsWellDefined": "ENSP00000366169.3:p.Arg1754His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271397"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5332,
          "referenceAllele": "G",
          "start": 5331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "ENST00000425460.5:c.5285G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407879.1:p.Arg1762His",
        "hgvsWellDefined": "ENSP00000407879.1:p.Arg1762His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3405,
          "referenceAllele": "G",
          "start": 3404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "ENST00000440075.6:c.1190G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406273.3:p.Arg397His",
        "hgvsWellDefined": "ENSP00000406273.3:p.Arg397His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295719"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2563,
          "referenceAllele": "G",
          "start": 2562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "ENST00000595016.1:n.2563G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394882"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5261,
          "referenceAllele": "G",
          "start": 5260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "ENST00000596571.5:c.5261G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472819.1:p.Arg1754His",
        "hgvsWellDefined": "ENSP00000472819.1:p.Arg1754His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5410,
          "referenceAllele": "G",
          "start": 5409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "ENST00000598205.5:c.5285G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472543.1:p.Arg1762His",
        "hgvsWellDefined": "ENSP00000472543.1:p.Arg1762His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396297"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5414,
          "referenceAllele": "G",
          "start": 5413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "ENST00000601313.5:c.5384G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470298.1:p.Arg1795His",
        "hgvsWellDefined": "ENSP00000470298.1:p.Arg1795His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825441346",
      "coordinates": [
        {
          "allele": "A",
          "end": 5332,
          "referenceAllele": "G",
          "start": 5331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "NM_001077186.1:c.5285G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070654.1:p.Arg1762His",
        "hgvsWellDefined": "NP_001070654.1:p.Arg1762His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139685920",
      "coordinates": [
        {
          "allele": "A",
          "end": 5431,
          "referenceAllele": "G",
          "start": 5430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "NM_001145809.1:c.5384G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139281.1:p.Arg1795His",
        "hgvsWellDefined": "NP_001139281.1:p.Arg1795His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830030952",
      "coordinates": [
        {
          "allele": "A",
          "end": 5308,
          "referenceAllele": "G",
          "start": 5307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "NM_024729.3:c.5261G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_079005.3:p.Arg1754His",
        "hgvsWellDefined": "NP_079005.3:p.Arg1754His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037969"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5385,
          "referenceAllele": "G",
          "start": 5384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "XM_006723386.2:c.5285G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723449.1:p.Arg1762His",
        "hgvsWellDefined": "XP_006723449.1:p.Arg1762His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5410,
          "referenceAllele": "G",
          "start": 5409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "XM_011527320.1:c.5405G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525622.1:p.Arg1802His",
        "hgvsWellDefined": "XP_011525622.1:p.Arg1802His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5386,
          "referenceAllele": "G",
          "start": 5385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "XM_011527321.1:c.5381G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525623.1:p.Arg1794His",
        "hgvsWellDefined": "XP_011525623.1:p.Arg1794His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5314,
          "referenceAllele": "G",
          "start": 5313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "XM_011527322.1:c.5309G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525624.1:p.Arg1770His",
        "hgvsWellDefined": "XP_011525624.1:p.Arg1770His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094416"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5374,
          "referenceAllele": "G",
          "start": 5373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "XM_011527323.1:c.5285G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525625.1:p.Arg1762His",
        "hgvsWellDefined": "XP_011525625.1:p.Arg1762His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5392,
          "referenceAllele": "G",
          "start": 5391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "XM_006723386.4:c.5285G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723449.1:p.Arg1762His",
        "hgvsWellDefined": "XP_006723449.1:p.Arg1762His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5410,
          "referenceAllele": "G",
          "start": 5409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "XM_011527320.2:c.5405G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525622.1:p.Arg1802His",
        "hgvsWellDefined": "XP_011525622.1:p.Arg1802His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548626"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5386,
          "referenceAllele": "G",
          "start": 5385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "XM_011527321.2:c.5381G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525623.1:p.Arg1794His",
        "hgvsWellDefined": "XP_011525623.1:p.Arg1794His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548627"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5400,
          "referenceAllele": "G",
          "start": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "XM_011527323.2:c.5285G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525625.1:p.Arg1762His",
        "hgvsWellDefined": "XP_011525625.1:p.Arg1762His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5368,
          "referenceAllele": "G",
          "start": 5367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "XM_024451721.1:c.5261G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307489.1:p.Arg1754His",
        "hgvsWellDefined": "XP_024307489.1:p.Arg1754His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585232"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825441346",
      "coordinates": [
        {
          "allele": "A",
          "end": 5338,
          "referenceAllele": "G",
          "start": 5337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "NM_001077186.2:c.5285G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070654.1:p.Arg1762His",
        "hgvsWellDefined": "NP_001070654.1:p.Arg1762His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676136"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139685920",
      "coordinates": [
        {
          "allele": "A",
          "end": 5437,
          "referenceAllele": "G",
          "start": 5436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "NM_001145809.2:c.5384G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139281.1:p.Arg1795His",
        "hgvsWellDefined": "NP_001139281.1:p.Arg1795His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677942",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642316.2:c.5384G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001145809.2:c.5384G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493594.1:p.Arg1795His"
          },
          "RefSeq": {
            "hgvs": "NP_001139281.1:p.Arg1795His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830030952",
      "coordinates": [
        {
          "allele": "A",
          "end": 5314,
          "referenceAllele": "G",
          "start": 5313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "NM_024729.4:c.5261G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_079005.3:p.Arg1754His",
        "hgvsWellDefined": "NP_079005.3:p.Arg1754His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728666"
    }
  ],
  "type": "nucleotide"
}