{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA309099824",
  "communityStandardTitle": [
    "NM_024301.5(FKRP):c.1154C>G (p.Ser385Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4190518[alleleid]",
        "alleleId": 4190518,
        "preferredName": "NM_024301.5(FKRP):c.1154C>G (p.Ser385Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4078652",
        "RCV": [
          "RCV005634164"
        ],
        "variationId": 4078652
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.47259861C>G?assembly=hg19",
        "id": "chr19:g.47259861C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.46756604C>G?assembly=hg38",
        "id": "chr19:g.46756604C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894680",
        "rs": 104894680
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-46756604-C-G?dataset=gnomad_r4",
        "id": "19-46756604-C-G",
        "variant": "19:46756604 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 46756604,
          "referenceAllele": "C",
          "start": 46756603
        }
      ],
      "hgvs": [
        "NC_000019.10:g.46756604C>G",
        "CM000681.2:g.46756604C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 47259861,
          "referenceAllele": "C",
          "start": 47259860
        }
      ],
      "hgvs": [
        "NC_000019.9:g.47259861C>G",
        "CM000681.1:g.47259861C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 51951701,
          "referenceAllele": "C",
          "start": 51951700
        }
      ],
      "hgvs": [
        "NC_000019.8:g.51951701C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15559,
          "referenceAllele": "C",
          "start": 15558
        }
      ],
      "hgvs": [
        "NG_008898.2:g.15559C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001290"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1440,
          "referenceAllele": "C",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000318584.10:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326570.4:p.Ser385Trp",
        "hgvsWellDefined": "ENSP00000326570.4:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746230",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318584.10:c.1154C>G"
          },
          "RefSeq": {
            "hgvs": "NM_024301.5:c.1154C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326570.4:p.Ser385Trp"
          },
          "RefSeq": {
            "hgvs": "NP_077277.1:p.Ser385Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1451,
          "referenceAllele": "C",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000318584.9:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326570.4:p.Ser385Trp",
        "hgvsWellDefined": "ENSP00000326570.4:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1492,
          "referenceAllele": "C",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000391909.7:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375776.2:p.Ser385Trp",
        "hgvsWellDefined": "ENSP00000375776.2:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 246,
          "endIntronDirection": "-",
          "endIntronOffset": 5228,
          "referenceAllele": "C",
          "start": 246,
          "startIntronDirection": "-",
          "startIntronOffset": 5229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000597339.5:n.247-5229C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395923"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 247,
          "endIntronDirection": "+",
          "endIntronOffset": 7939,
          "referenceAllele": "C",
          "start": 247,
          "startIntronDirection": "+",
          "startIntronOffset": 7938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "ENST00000600646.5:n.247+7939C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397379"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1503,
          "referenceAllele": "C",
          "start": 1502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_001039885.2:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001034974.1:p.Ser385Trp",
        "hgvsWellDefined": "NP_001034974.1:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085868766",
      "coordinates": [
        {
          "allele": "G",
          "end": 1451,
          "referenceAllele": "C",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_024301.4:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_077277.1:p.Ser385Trp",
        "hgvsWellDefined": "NP_077277.1:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037714"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1563,
          "referenceAllele": "C",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259247.1:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259304.1:p.Ser385Trp",
        "hgvsWellDefined": "XP_005259304.1:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1523,
          "referenceAllele": "C",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259248.1:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259305.1:p.Ser385Trp",
        "hgvsWellDefined": "XP_005259305.1:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1501,
          "referenceAllele": "C",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259249.3:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259306.1:p.Ser385Trp",
        "hgvsWellDefined": "XP_005259306.1:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1549,
          "referenceAllele": "C",
          "start": 1548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259250.3:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259307.1:p.Ser385Trp",
        "hgvsWellDefined": "XP_005259307.1:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1845,
          "referenceAllele": "C",
          "start": 1844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527301.1:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525603.1:p.Ser385Trp",
        "hgvsWellDefined": "XP_011525603.1:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094395"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1834,
          "referenceAllele": "C",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527302.1:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525604.1:p.Ser385Trp",
        "hgvsWellDefined": "XP_011525604.1:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094396"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1647,
          "referenceAllele": "C",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527303.1:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525605.1:p.Ser385Trp",
        "hgvsWellDefined": "XP_011525605.1:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094397"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1585,
          "referenceAllele": "C",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527304.1:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525606.1:p.Ser385Trp",
        "hgvsWellDefined": "XP_011525606.1:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094398"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1431,
          "referenceAllele": "C",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527305.1:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525607.1:p.Ser385Trp",
        "hgvsWellDefined": "XP_011525607.1:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094399"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1300,
          "referenceAllele": "C",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527306.1:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525608.1:p.Ser385Trp",
        "hgvsWellDefined": "XP_011525608.1:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1349,
          "referenceAllele": "C",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527307.1:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525609.1:p.Ser385Trp",
        "hgvsWellDefined": "XP_011525609.1:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1564,
          "referenceAllele": "C",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259247.2:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259304.1:p.Ser385Trp",
        "hgvsWellDefined": "XP_005259304.1:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534968"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1554,
          "referenceAllele": "C",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259248.2:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259305.1:p.Ser385Trp",
        "hgvsWellDefined": "XP_005259305.1:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534969"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1496,
          "referenceAllele": "C",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_005259249.4:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259306.1:p.Ser385Trp",
        "hgvsWellDefined": "XP_005259306.1:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534970"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1289,
          "referenceAllele": "C",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_011527306.2:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525608.1:p.Ser385Trp",
        "hgvsWellDefined": "XP_011525608.1:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1659,
          "referenceAllele": "C",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_017027297.2:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882786.1:p.Ser385Trp",
        "hgvsWellDefined": "XP_016882786.1:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577270"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1361,
          "referenceAllele": "C",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "XM_024451707.1:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307475.1:p.Ser385Trp",
        "hgvsWellDefined": "XP_024307475.1:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585218"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1492,
          "referenceAllele": "C",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_001039885.3:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001034974.1:p.Ser385Trp",
        "hgvsWellDefined": "NP_001034974.1:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675931"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085868766",
      "coordinates": [
        {
          "allele": "G",
          "end": 1440,
          "referenceAllele": "C",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_024301.5:c.1154C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_077277.1:p.Ser385Trp",
        "hgvsWellDefined": "NP_077277.1:p.Ser385Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698678",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318584.10:c.1154C>G"
          },
          "RefSeq": {
            "hgvs": "NM_024301.5:c.1154C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326570.4:p.Ser385Trp"
          },
          "RefSeq": {
            "hgvs": "NP_077277.1:p.Ser385Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}