{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA373241337",
  "communityStandardTitle": [
    "NM_020702.5(MYORG):c.1427C>A (p.Thr476Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=679914[alleleid]",
        "alleleId": 679914,
        "preferredName": "NM_020702.5(MYORG):c.1427C>A (p.Thr476Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/692178",
        "RCV": [
          "RCV000853525",
          "RCV003117619"
        ],
        "variationId": 692178
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.34371515G>T?assembly=hg19",
        "id": "chr9:g.34371515G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.34371517G>T?assembly=hg38",
        "id": "chr9:g.34371517G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/769099047",
        "rs": 769099047
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-34371515-G-T?dataset=gnomad_r2_1",
        "id": "9-34371515-G-T",
        "variant": "9:34371515 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-34371517-G-T?dataset=gnomad_r4",
        "id": "9-34371517-G-T",
        "variant": "9:34371517 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 34371517,
          "referenceAllele": "G",
          "start": 34371516
        }
      ],
      "hgvs": [
        "NC_000009.12:g.34371517G>T",
        "CM000671.2:g.34371517G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 34371515,
          "referenceAllele": "G",
          "start": 34371514
        }
      ],
      "hgvs": [
        "NC_000009.11:g.34371515G>T",
        "CM000671.1:g.34371515G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 34361515,
          "referenceAllele": "G",
          "start": 34361514
        }
      ],
      "hgvs": [
        "NC_000009.10:g.34361515G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1596,
          "referenceAllele": "C",
          "start": 1595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019918",
      "geneNCBI_id": 57462,
      "geneSymbol": "MYORG",
      "hgvs": [
        "ENST00000297625.8:c.1427C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297625.8:p.Thr476Asn",
        "hgvsWellDefined": "ENSP00000297625.8:p.Thr476Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297625.8:c.1427C>A"
          },
          "RefSeq": {
            "hgvs": "NM_020702.5:c.1427C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297625.8:p.Thr476Asn"
          },
          "RefSeq": {
            "hgvs": "NP_065753.2:p.Thr476Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1551,
          "referenceAllele": "C",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019918",
      "geneNCBI_id": 57462,
      "geneSymbol": "MYORG",
      "hgvs": [
        "ENST00000297625.7:c.1427C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297625.8:p.Thr476Asn",
        "hgvsWellDefined": "ENSP00000297625.8:p.Thr476Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916076170",
      "coordinates": [
        {
          "allele": "A",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019918",
      "geneNCBI_id": 57462,
      "geneSymbol": "MYORG",
      "hgvs": [
        "NM_020702.4:c.1427C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065753.2:p.Thr476Asn",
        "hgvsWellDefined": "NP_065753.2:p.Thr476Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1568,
          "referenceAllele": "C",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019918",
      "geneNCBI_id": 57462,
      "geneSymbol": "MYORG",
      "hgvs": [
        "XM_011517966.1:c.1427C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516268.1:p.Thr476Asn",
        "hgvsWellDefined": "XP_011516268.1:p.Thr476Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1645,
          "referenceAllele": "C",
          "start": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019918",
      "geneNCBI_id": 57462,
      "geneSymbol": "MYORG",
      "hgvs": [
        "XM_011517966.3:c.1427C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516268.1:p.Thr476Asn",
        "hgvsWellDefined": "XP_011516268.1:p.Thr476Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2194,
          "referenceAllele": "C",
          "start": 2193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019918",
      "geneNCBI_id": 57462,
      "geneSymbol": "MYORG",
      "hgvs": [
        "XM_017014930.2:c.1427C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870419.1:p.Thr476Asn",
        "hgvsWellDefined": "XP_016870419.1:p.Thr476Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567772"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916076170",
      "coordinates": [
        {
          "allele": "A",
          "end": 1596,
          "referenceAllele": "C",
          "start": 1595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019918",
      "geneNCBI_id": 57462,
      "geneSymbol": "MYORG",
      "hgvs": [
        "NM_020702.5:c.1427C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065753.2:p.Thr476Asn",
        "hgvsWellDefined": "NP_065753.2:p.Thr476Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670067",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297625.8:c.1427C>A"
          },
          "RefSeq": {
            "hgvs": "NM_020702.5:c.1427C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297625.8:p.Thr476Asn"
          },
          "RefSeq": {
            "hgvs": "NP_065753.2:p.Thr476Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}