{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA210487",
  "communityStandardTitle": [
    "NM_024996.7(GFM1):c.1487T>G (p.Met496Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19201[alleleid]",
        "alleleId": 19201,
        "preferredName": "NM_024996.7(GFM1):c.1487T>G (p.Met496Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4162",
        "RCV": [
          "RCV000004379"
        ],
        "variationId": 4162
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.158383232T>G?assembly=hg19",
        "id": "chr3:g.158383232T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.158665443T>G?assembly=hg38",
        "id": "chr3:g.158665443T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/119470020",
        "rs": 119470020
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 158665443,
          "referenceAllele": "T",
          "start": 158665442
        }
      ],
      "hgvs": [
        "NC_000003.12:g.158665443T>G",
        "CM000665.2:g.158665443T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 158383232,
          "referenceAllele": "T",
          "start": 158383231
        }
      ],
      "hgvs": [
        "NC_000003.11:g.158383232T>G",
        "CM000665.1:g.158383232T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 159865926,
          "referenceAllele": "T",
          "start": 159865925
        }
      ],
      "hgvs": [
        "NC_000003.10:g.159865926T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 25916,
          "referenceAllele": "T",
          "start": 25915
        }
      ],
      "hgvs": [
        "NG_008441.1:g.25916T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001102"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1595,
          "referenceAllele": "T",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "ENST00000486715.6:c.1487T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419038.1:p.Met496Arg",
        "hgvsWellDefined": "ENSP00000419038.1:p.Met496Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757546",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000486715.6:c.1487T>G"
          },
          "RefSeq": {
            "hgvs": "NM_024996.7:c.1487T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419038.1:p.Met496Arg"
          },
          "RefSeq": {
            "hgvs": "NP_079272.4:p.Met496Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1582,
          "referenceAllele": "T",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "ENST00000264263.9:c.1544T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264263.5:p.Met515Arg",
        "hgvsWellDefined": "ENSP00000264263.5:p.Met515Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251466"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1596,
          "referenceAllele": "T",
          "start": 1595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "ENST00000478254.5:c.*127T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417225.1:n.*127T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS318900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1594,
          "referenceAllele": "T",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "ENST00000478576.5:c.1487T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418755.1:p.Met496Arg",
        "hgvsWellDefined": "ENSP00000418755.1:p.Met496Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 361,
          "endIntronDirection": "+",
          "endIntronOffset": 1569,
          "referenceAllele": "A",
          "start": 361,
          "startIntronDirection": "+",
          "startIntronOffset": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013347",
      "geneNCBI_id": 56925,
      "geneSymbol": "LXN",
      "hgvs": [
        "ENST00000482640.5:c.361+1569A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322287"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1844,
          "referenceAllele": "T",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "ENST00000486715.5:c.1487T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419038.1:p.Met496Arg",
        "hgvsWellDefined": "ENSP00000419038.1:p.Met496Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS325458"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916020930",
      "coordinates": [
        {
          "allele": "G",
          "end": 1651,
          "referenceAllele": "T",
          "start": 1650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001308164.1:c.1544T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295093.1:p.Met515Arg",
        "hgvsWellDefined": "NP_001295093.1:p.Met515Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026187"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826928756",
      "coordinates": [
        {
          "allele": "G",
          "end": 1594,
          "referenceAllele": "T",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001308166.1:c.1487T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295095.1:p.Met496Arg",
        "hgvsWellDefined": "NP_001295095.1:p.Met496Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026189"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092908",
      "coordinates": [
        {
          "allele": "G",
          "end": 1594,
          "referenceAllele": "T",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_024996.5:c.1487T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079272.4:p.Met496Arg",
        "hgvsWellDefined": "NP_079272.4:p.Met496Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038154"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1508,
          "referenceAllele": "T",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "XM_006713795.1:c.1370T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713858.1:p.Met457Arg",
        "hgvsWellDefined": "XP_006713858.1:p.Met457Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070364"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1481,
          "referenceAllele": "T",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "XM_006713795.2:c.1370T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713858.1:p.Met457Arg",
        "hgvsWellDefined": "XP_006713858.1:p.Met457Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828506627",
      "coordinates": [
        {
          "allele": "G",
          "end": 1514,
          "referenceAllele": "T",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374355.1:c.1406T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361284.1:p.Met469Arg",
        "hgvsWellDefined": "NP_001361284.1:p.Met469Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693242"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828507028",
      "coordinates": [
        {
          "allele": "G",
          "end": 1478,
          "referenceAllele": "T",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374356.1:c.1370T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361285.1:p.Met457Arg",
        "hgvsWellDefined": "NP_001361285.1:p.Met457Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693243"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828507385",
      "coordinates": [
        {
          "allele": "G",
          "end": 1761,
          "referenceAllele": "T",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374357.1:c.1262T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361286.1:p.Met421Arg",
        "hgvsWellDefined": "NP_001361286.1:p.Met421Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828507719",
      "coordinates": [
        {
          "allele": "G",
          "end": 1136,
          "referenceAllele": "T",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374358.1:c.1028T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361287.1:p.Met343Arg",
        "hgvsWellDefined": "NP_001361287.1:p.Met343Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828508041",
      "coordinates": [
        {
          "allele": "G",
          "end": 1257,
          "referenceAllele": "T",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374359.1:c.920T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361288.1:p.Met307Arg",
        "hgvsWellDefined": "NP_001361288.1:p.Met307Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693246"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828508343",
      "coordinates": [
        {
          "allele": "G",
          "end": 1257,
          "referenceAllele": "T",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374360.1:c.920T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361289.1:p.Met307Arg",
        "hgvsWellDefined": "NP_001361289.1:p.Met307Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828508622",
      "coordinates": [
        {
          "allele": "G",
          "end": 1140,
          "referenceAllele": "T",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374361.1:c.803T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361290.1:p.Met268Arg",
        "hgvsWellDefined": "NP_001361290.1:p.Met268Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693248"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092908",
      "coordinates": [
        {
          "allele": "G",
          "end": 1595,
          "referenceAllele": "T",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_024996.7:c.1487T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079272.4:p.Met496Arg",
        "hgvsWellDefined": "NP_079272.4:p.Met496Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698799",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000486715.6:c.1487T>G"
          },
          "RefSeq": {
            "hgvs": "NM_024996.7:c.1487T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419038.1:p.Met496Arg"
          },
          "RefSeq": {
            "hgvs": "NP_079272.4:p.Met496Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1510,
          "referenceAllele": "T",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NR_164499.1:n.1510T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1595,
          "referenceAllele": "T",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NR_164500.1:n.1595T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1140,
          "referenceAllele": "T",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NR_164501.1:n.1140T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1474,
          "referenceAllele": "T",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NR_164502.1:n.1474T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916020930",
      "coordinates": [
        {
          "allele": "G",
          "end": 1652,
          "referenceAllele": "T",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001308164.2:c.1544T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295093.1:p.Met515Arg",
        "hgvsWellDefined": "NP_001295093.1:p.Met515Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717234"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826928756",
      "coordinates": [
        {
          "allele": "G",
          "end": 1595,
          "referenceAllele": "T",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001308166.2:c.1487T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295095.1:p.Met496Arg",
        "hgvsWellDefined": "NP_001295095.1:p.Met496Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717236"
    }
  ],
  "type": "nucleotide"
}