{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA013710",
  "communityStandardTitle": [
    "NM_000258.3(MYL3):c.280C>T (p.Arg94Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=179060[alleleid]",
        "alleleId": 179060,
        "preferredName": "NM_000258.3(MYL3):c.280C>T (p.Arg94Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/181448",
        "RCV": [
          "RCV000233649",
          "RCV001176080",
          "RCV003128586",
          "RCV002433708"
        ],
        "variationId": 181448
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-46902193-G-A",
        "id": "3-46902193-G-A",
        "variant": "3:46902193 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.46902193G>A?assembly=hg19",
        "id": "chr3:g.46902193G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.46860703G>A?assembly=hg38",
        "id": "chr3:g.46860703G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/730880961",
        "rs": 730880961
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-46902193-G-A?dataset=gnomad_r2_1",
        "id": "3-46902193-G-A",
        "variant": "3:46902193 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-46860703-G-A?dataset=gnomad_r3",
        "id": "3-46860703-G-A",
        "variant": "3:46860703 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-46860703-G-A?dataset=gnomad_r4",
        "id": "3-46860703-G-A",
        "variant": "3:46860703 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 46860703,
          "referenceAllele": "G",
          "start": 46860702
        }
      ],
      "hgvs": [
        "NC_000003.12:g.46860703G>A",
        "CM000665.2:g.46860703G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 46902193,
          "referenceAllele": "G",
          "start": 46902192
        }
      ],
      "hgvs": [
        "NC_000003.11:g.46902193G>A",
        "CM000665.1:g.46902193G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 46877197,
          "referenceAllele": "G",
          "start": 46877196
        }
      ],
      "hgvs": [
        "NC_000003.10:g.46877197G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26467,
          "referenceAllele": "C",
          "start": 26466
        }
      ],
      "hgvs": [
        "NG_007555.2:g.26467C>T",
        "LRG_395:g.26467C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000645"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "referenceAllele": "C",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007584",
      "geneNCBI_id": 4634,
      "geneSymbol": "MYL3",
      "hgvs": [
        "ENST00000431168.2:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393455.2:p.Arg94Cys",
        "hgvsWellDefined": "ENSP00000393455.2:p.Arg94Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 334,
          "referenceAllele": "C",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007584",
      "geneNCBI_id": 4634,
      "geneSymbol": "MYL3",
      "hgvs": [
        "ENST00000292327.6:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292327.4:p.Arg94Cys",
        "hgvsWellDefined": "ENSP00000292327.4:p.Arg94Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744109",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000292327.6:c.280C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000258.3:c.280C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000292327.4:p.Arg94Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000249.1:p.Arg94Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 334,
          "referenceAllele": "C",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007584",
      "geneNCBI_id": 4634,
      "geneSymbol": "MYL3",
      "hgvs": [
        "ENST00000653454.1:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499624.1:p.Arg94Cys",
        "hgvsWellDefined": "ENSP00000499624.1:p.Arg94Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 478,
          "referenceAllele": "C",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007584",
      "geneNCBI_id": 4634,
      "geneSymbol": "MYL3",
      "hgvs": [
        "ENST00000654597.1:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499406.1:p.Arg94Cys",
        "hgvsWellDefined": "ENSP00000499406.1:p.Arg94Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "C",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007584",
      "geneNCBI_id": 4634,
      "geneSymbol": "MYL3",
      "hgvs": [
        "ENST00000655244.1:n.502C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 412,
          "referenceAllele": "C",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007584",
      "geneNCBI_id": 4634,
      "geneSymbol": "MYL3",
      "hgvs": [
        "ENST00000662933.1:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499577.1:p.Arg94Cys",
        "hgvsWellDefined": "ENSP00000499577.1:p.Arg94Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772797"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 238,
          "referenceAllele": "C",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007584",
      "geneNCBI_id": 4634,
      "geneSymbol": "MYL3",
      "hgvs": [
        "ENST00000664891.1:n.238C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007584",
      "geneNCBI_id": 4634,
      "geneSymbol": "MYL3",
      "hgvs": [
        "ENST00000292327.4:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292327.4:p.Arg94Cys",
        "hgvsWellDefined": "ENSP00000292327.4:p.Arg94Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "referenceAllele": "C",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007584",
      "geneNCBI_id": 4634,
      "geneSymbol": "MYL3",
      "hgvs": [
        "ENST00000395869.5:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379210.1:p.Arg94Cys",
        "hgvsWellDefined": "ENSP00000379210.1:p.Arg94Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA296998",
      "coordinates": [
        {
          "allele": "T",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007584",
      "geneNCBI_id": 4634,
      "geneSymbol": "MYL3",
      "hgvs": [
        "NM_000258.2:c.280C>T",
        "LRG_395t1:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000249.1:p.Arg94Cys",
        "hgvsWellDefined": "NP_000249.1:p.Arg94Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006320"
    },
    {
      "@id": "http://reg.genome.network/allele/PA296998",
      "coordinates": [
        {
          "allele": "T",
          "end": 334,
          "referenceAllele": "C",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007584",
      "geneNCBI_id": 4634,
      "geneSymbol": "MYL3",
      "hgvs": [
        "NM_000258.3:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000249.1:p.Arg94Cys",
        "hgvsWellDefined": "NP_000249.1:p.Arg94Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674765",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000292327.6:c.280C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000258.3:c.280C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000292327.4:p.Arg94Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000249.1:p.Arg94Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}