{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2682701",
  "communityStandardTitle": [
    "NM_024996.7(GFM1):c.1571C>T (p.Ala524Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=800340[alleleid]",
        "alleleId": 800340,
        "preferredName": "NM_024996.7(GFM1):c.1571C>T (p.Ala524Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/812094",
        "RCV": [
          "RCV001002684"
        ],
        "variationId": 812094
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-158384145-C-T",
        "id": "3-158384145-C-T",
        "variant": "3:158384145 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.158384145C>T?assembly=hg19",
        "id": "chr3:g.158384145C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.158666356C>T?assembly=hg38",
        "id": "chr3:g.158666356C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143031224",
        "rs": 143031224
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-158384145-C-T?dataset=gnomad_r2_1",
        "id": "3-158384145-C-T",
        "variant": "3:158384145 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 158666356,
          "referenceAllele": "C",
          "start": 158666355
        }
      ],
      "hgvs": [
        "NC_000003.12:g.158666356C>T",
        "CM000665.2:g.158666356C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 158384145,
          "referenceAllele": "C",
          "start": 158384144
        }
      ],
      "hgvs": [
        "NC_000003.11:g.158384145C>T",
        "CM000665.1:g.158384145C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 159866839,
          "referenceAllele": "C",
          "start": 159866838
        }
      ],
      "hgvs": [
        "NC_000003.10:g.159866839C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26829,
          "referenceAllele": "C",
          "start": 26828
        }
      ],
      "hgvs": [
        "NG_008441.1:g.26829C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001102"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1679,
          "referenceAllele": "C",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "ENST00000486715.6:c.1571C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419038.1:p.Ala524Val",
        "hgvsWellDefined": "ENSP00000419038.1:p.Ala524Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757546",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000486715.6:c.1571C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024996.7:c.1571C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419038.1:p.Ala524Val"
          },
          "RefSeq": {
            "hgvs": "NP_079272.4:p.Ala524Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1666,
          "referenceAllele": "C",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "ENST00000264263.9:c.1628C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264263.5:p.Ala543Val",
        "hgvsWellDefined": "ENSP00000264263.5:p.Ala543Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1680,
          "referenceAllele": "C",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "ENST00000478254.5:c.*211C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417225.1:n.*211C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS318900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1678,
          "referenceAllele": "C",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "ENST00000478576.5:c.1571C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418755.1:p.Ala524Val",
        "hgvsWellDefined": "ENSP00000418755.1:p.Ala524Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 361,
          "endIntronDirection": "+",
          "endIntronOffset": 656,
          "referenceAllele": "G",
          "start": 361,
          "startIntronDirection": "+",
          "startIntronOffset": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013347",
      "geneNCBI_id": 56925,
      "geneSymbol": "LXN",
      "hgvs": [
        "ENST00000482640.5:c.361+656G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1928,
          "referenceAllele": "C",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "ENST00000486715.5:c.1571C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419038.1:p.Ala524Val",
        "hgvsWellDefined": "ENSP00000419038.1:p.Ala524Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS325458"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916020932",
      "coordinates": [
        {
          "allele": "T",
          "end": 1735,
          "referenceAllele": "C",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001308164.1:c.1628C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295093.1:p.Ala543Val",
        "hgvsWellDefined": "NP_001295093.1:p.Ala543Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026187"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826928770",
      "coordinates": [
        {
          "allele": "T",
          "end": 1678,
          "referenceAllele": "C",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001308166.1:c.1571C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295095.1:p.Ala524Val",
        "hgvsWellDefined": "NP_001295095.1:p.Ala524Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026189"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830048643",
      "coordinates": [
        {
          "allele": "T",
          "end": 1678,
          "referenceAllele": "C",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_024996.5:c.1571C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079272.4:p.Ala524Val",
        "hgvsWellDefined": "NP_079272.4:p.Ala524Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1592,
          "referenceAllele": "C",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "XM_006713795.1:c.1454C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713858.1:p.Ala485Val",
        "hgvsWellDefined": "XP_006713858.1:p.Ala485Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1565,
          "referenceAllele": "C",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "XM_006713795.2:c.1454C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713858.1:p.Ala485Val",
        "hgvsWellDefined": "XP_006713858.1:p.Ala485Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828506641",
      "coordinates": [
        {
          "allele": "T",
          "end": 1598,
          "referenceAllele": "C",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374355.1:c.1490C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361284.1:p.Ala497Val",
        "hgvsWellDefined": "NP_001361284.1:p.Ala497Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693242"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828507042",
      "coordinates": [
        {
          "allele": "T",
          "end": 1562,
          "referenceAllele": "C",
          "start": 1561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374356.1:c.1454C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361285.1:p.Ala485Val",
        "hgvsWellDefined": "NP_001361285.1:p.Ala485Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693243"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828507399",
      "coordinates": [
        {
          "allele": "T",
          "end": 1845,
          "referenceAllele": "C",
          "start": 1844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374357.1:c.1346C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361286.1:p.Ala449Val",
        "hgvsWellDefined": "NP_001361286.1:p.Ala449Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828507733",
      "coordinates": [
        {
          "allele": "T",
          "end": 1220,
          "referenceAllele": "C",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374358.1:c.1112C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361287.1:p.Ala371Val",
        "hgvsWellDefined": "NP_001361287.1:p.Ala371Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828508055",
      "coordinates": [
        {
          "allele": "T",
          "end": 1341,
          "referenceAllele": "C",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374359.1:c.1004C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361288.1:p.Ala335Val",
        "hgvsWellDefined": "NP_001361288.1:p.Ala335Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693246"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828508357",
      "coordinates": [
        {
          "allele": "T",
          "end": 1341,
          "referenceAllele": "C",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374360.1:c.1004C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361289.1:p.Ala335Val",
        "hgvsWellDefined": "NP_001361289.1:p.Ala335Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828508636",
      "coordinates": [
        {
          "allele": "T",
          "end": 1224,
          "referenceAllele": "C",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374361.1:c.887C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361290.1:p.Ala296Val",
        "hgvsWellDefined": "NP_001361290.1:p.Ala296Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693248"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830048643",
      "coordinates": [
        {
          "allele": "T",
          "end": 1679,
          "referenceAllele": "C",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_024996.7:c.1571C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079272.4:p.Ala524Val",
        "hgvsWellDefined": "NP_079272.4:p.Ala524Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698799",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000486715.6:c.1571C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024996.7:c.1571C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419038.1:p.Ala524Val"
          },
          "RefSeq": {
            "hgvs": "NP_079272.4:p.Ala524Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NR_164499.1:n.1594C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1679,
          "referenceAllele": "C",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NR_164500.1:n.1679C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1224,
          "referenceAllele": "C",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NR_164501.1:n.1224C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1558,
          "referenceAllele": "C",
          "start": 1557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NR_164502.1:n.1558C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916020932",
      "coordinates": [
        {
          "allele": "T",
          "end": 1736,
          "referenceAllele": "C",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001308164.2:c.1628C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295093.1:p.Ala543Val",
        "hgvsWellDefined": "NP_001295093.1:p.Ala543Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717234"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826928770",
      "coordinates": [
        {
          "allele": "T",
          "end": 1679,
          "referenceAllele": "C",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001308166.2:c.1571C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295095.1:p.Ala524Val",
        "hgvsWellDefined": "NP_001295095.1:p.Ala524Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717236"
    }
  ],
  "type": "nucleotide"
}