{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA355178541",
  "communityStandardTitle": [
    "NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=800339[alleleid]",
        "alleleId": 800339,
        "preferredName": "NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/812092",
        "RCV": [
          "RCV001002682"
        ],
        "variationId": 812092
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.158384120T>C?assembly=hg19",
        "id": "chr3:g.158384120T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.158666331T>C?assembly=hg38",
        "id": "chr3:g.158666331T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1576757241",
        "rs": 1576757241
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-158666331-T-C?dataset=gnomad_r4",
        "id": "3-158666331-T-C",
        "variant": "3:158666331 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 158666331,
          "referenceAllele": "T",
          "start": 158666330
        }
      ],
      "hgvs": [
        "NC_000003.12:g.158666331T>C",
        "CM000665.2:g.158666331T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 158384120,
          "referenceAllele": "T",
          "start": 158384119
        }
      ],
      "hgvs": [
        "NC_000003.11:g.158384120T>C",
        "CM000665.1:g.158384120T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 159866814,
          "referenceAllele": "T",
          "start": 159866813
        }
      ],
      "hgvs": [
        "NC_000003.10:g.159866814T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 26804,
          "referenceAllele": "T",
          "start": 26803
        }
      ],
      "hgvs": [
        "NG_008441.1:g.26804T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001102"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1654,
          "referenceAllele": "T",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "ENST00000486715.6:c.1546T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419038.1:p.Cys516Arg",
        "hgvsWellDefined": "ENSP00000419038.1:p.Cys516Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757546",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000486715.6:c.1546T>C"
          },
          "RefSeq": {
            "hgvs": "NM_024996.7:c.1546T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419038.1:p.Cys516Arg"
          },
          "RefSeq": {
            "hgvs": "NP_079272.4:p.Cys516Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1641,
          "referenceAllele": "T",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "ENST00000264263.9:c.1603T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264263.5:p.Cys535Arg",
        "hgvsWellDefined": "ENSP00000264263.5:p.Cys535Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251466"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1655,
          "referenceAllele": "T",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "ENST00000478254.5:c.*186T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417225.1:n.*186T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS318900"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1653,
          "referenceAllele": "T",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "ENST00000478576.5:c.1546T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418755.1:p.Cys516Arg",
        "hgvsWellDefined": "ENSP00000418755.1:p.Cys516Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319154"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 361,
          "endIntronDirection": "+",
          "endIntronOffset": 681,
          "referenceAllele": "A",
          "start": 361,
          "startIntronDirection": "+",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013347",
      "geneNCBI_id": 56925,
      "geneSymbol": "LXN",
      "hgvs": [
        "ENST00000482640.5:c.361+681A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322287"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1903,
          "referenceAllele": "T",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "ENST00000486715.5:c.1546T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419038.1:p.Cys516Arg",
        "hgvsWellDefined": "ENSP00000419038.1:p.Cys516Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS325458"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916020931",
      "coordinates": [
        {
          "allele": "C",
          "end": 1710,
          "referenceAllele": "T",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001308164.1:c.1603T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295093.1:p.Cys535Arg",
        "hgvsWellDefined": "NP_001295093.1:p.Cys535Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026187"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826928768",
      "coordinates": [
        {
          "allele": "C",
          "end": 1653,
          "referenceAllele": "T",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001308166.1:c.1546T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295095.1:p.Cys516Arg",
        "hgvsWellDefined": "NP_001295095.1:p.Cys516Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026189"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830048641",
      "coordinates": [
        {
          "allele": "C",
          "end": 1653,
          "referenceAllele": "T",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_024996.5:c.1546T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_079272.4:p.Cys516Arg",
        "hgvsWellDefined": "NP_079272.4:p.Cys516Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1567,
          "referenceAllele": "T",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "XM_006713795.1:c.1429T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713858.1:p.Cys477Arg",
        "hgvsWellDefined": "XP_006713858.1:p.Cys477Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070364"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1540,
          "referenceAllele": "T",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "XM_006713795.2:c.1429T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713858.1:p.Cys477Arg",
        "hgvsWellDefined": "XP_006713858.1:p.Cys477Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828506639",
      "coordinates": [
        {
          "allele": "C",
          "end": 1573,
          "referenceAllele": "T",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374355.1:c.1465T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361284.1:p.Cys489Arg",
        "hgvsWellDefined": "NP_001361284.1:p.Cys489Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693242"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828507040",
      "coordinates": [
        {
          "allele": "C",
          "end": 1537,
          "referenceAllele": "T",
          "start": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374356.1:c.1429T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361285.1:p.Cys477Arg",
        "hgvsWellDefined": "NP_001361285.1:p.Cys477Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693243"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828507397",
      "coordinates": [
        {
          "allele": "C",
          "end": 1820,
          "referenceAllele": "T",
          "start": 1819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374357.1:c.1321T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361286.1:p.Cys441Arg",
        "hgvsWellDefined": "NP_001361286.1:p.Cys441Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828507731",
      "coordinates": [
        {
          "allele": "C",
          "end": 1195,
          "referenceAllele": "T",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374358.1:c.1087T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361287.1:p.Cys363Arg",
        "hgvsWellDefined": "NP_001361287.1:p.Cys363Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828508053",
      "coordinates": [
        {
          "allele": "C",
          "end": 1316,
          "referenceAllele": "T",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374359.1:c.979T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361288.1:p.Cys327Arg",
        "hgvsWellDefined": "NP_001361288.1:p.Cys327Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693246"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828508355",
      "coordinates": [
        {
          "allele": "C",
          "end": 1316,
          "referenceAllele": "T",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374360.1:c.979T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361289.1:p.Cys327Arg",
        "hgvsWellDefined": "NP_001361289.1:p.Cys327Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828508634",
      "coordinates": [
        {
          "allele": "C",
          "end": 1199,
          "referenceAllele": "T",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374361.1:c.862T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361290.1:p.Cys288Arg",
        "hgvsWellDefined": "NP_001361290.1:p.Cys288Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693248"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830048641",
      "coordinates": [
        {
          "allele": "C",
          "end": 1654,
          "referenceAllele": "T",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_024996.7:c.1546T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_079272.4:p.Cys516Arg",
        "hgvsWellDefined": "NP_079272.4:p.Cys516Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698799",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000486715.6:c.1546T>C"
          },
          "RefSeq": {
            "hgvs": "NM_024996.7:c.1546T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419038.1:p.Cys516Arg"
          },
          "RefSeq": {
            "hgvs": "NP_079272.4:p.Cys516Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1569,
          "referenceAllele": "T",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NR_164499.1:n.1569T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1654,
          "referenceAllele": "T",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NR_164500.1:n.1654T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1199,
          "referenceAllele": "T",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NR_164501.1:n.1199T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705745"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "referenceAllele": "T",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NR_164502.1:n.1533T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916020931",
      "coordinates": [
        {
          "allele": "C",
          "end": 1711,
          "referenceAllele": "T",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001308164.2:c.1603T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295093.1:p.Cys535Arg",
        "hgvsWellDefined": "NP_001295093.1:p.Cys535Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717234"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826928768",
      "coordinates": [
        {
          "allele": "C",
          "end": 1654,
          "referenceAllele": "T",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001308166.2:c.1546T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295095.1:p.Cys516Arg",
        "hgvsWellDefined": "NP_001295095.1:p.Cys516Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717236"
    }
  ],
  "type": "nucleotide"
}