{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA355177168",
  "communityStandardTitle": [
    "NM_024996.7(GFM1):c.952C>T (p.Pro318Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=857615[alleleid]",
        "alleleId": 857615,
        "preferredName": "NM_024996.7(GFM1):c.952C>T (p.Pro318Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/869394",
        "RCV": [
          "RCV001089485"
        ],
        "variationId": 869394
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.158371210C>T?assembly=hg19",
        "id": "chr3:g.158371210C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.158653421C>T?assembly=hg38",
        "id": "chr3:g.158653421C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1722463582",
        "rs": 1722463582
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-158653421-C-T?dataset=gnomad_r4",
        "id": "3-158653421-C-T",
        "variant": "3:158653421 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 158653421,
          "referenceAllele": "C",
          "start": 158653420
        }
      ],
      "hgvs": [
        "NC_000003.12:g.158653421C>T",
        "CM000665.2:g.158653421C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 158371210,
          "referenceAllele": "C",
          "start": 158371209
        }
      ],
      "hgvs": [
        "NC_000003.11:g.158371210C>T",
        "CM000665.1:g.158371210C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 159853904,
          "referenceAllele": "C",
          "start": 159853903
        }
      ],
      "hgvs": [
        "NC_000003.10:g.159853904C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13894,
          "referenceAllele": "C",
          "start": 13893
        }
      ],
      "hgvs": [
        "NG_008441.1:g.13894C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001102"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "ENST00000486715.6:c.952C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419038.1:p.Pro318Ser",
        "hgvsWellDefined": "ENSP00000419038.1:p.Pro318Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757546",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000486715.6:c.952C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024996.7:c.952C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419038.1:p.Pro318Ser"
          },
          "RefSeq": {
            "hgvs": "NP_079272.4:p.Pro318Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1047,
          "referenceAllele": "C",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "ENST00000264263.9:c.1009C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264263.5:p.Pro337Ser",
        "hgvsWellDefined": "ENSP00000264263.5:p.Pro337Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 161,
          "referenceAllele": "C",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "ENST00000312756.4:n.161C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS256723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1059,
          "referenceAllele": "C",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "ENST00000478254.5:c.952C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417225.1:p.Pro318Ser",
        "hgvsWellDefined": "ENSP00000417225.1:p.Pro318Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS318900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1059,
          "referenceAllele": "C",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "ENST00000478576.5:c.952C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418755.1:p.Pro318Ser",
        "hgvsWellDefined": "ENSP00000418755.1:p.Pro318Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 361,
          "endIntronDirection": "-",
          "endIntronOffset": 7211,
          "referenceAllele": "G",
          "start": 361,
          "startIntronDirection": "-",
          "startIntronOffset": 7212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013347",
      "geneNCBI_id": 56925,
      "geneSymbol": "LXN",
      "hgvs": [
        "ENST00000482640.5:c.362-7212G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1309,
          "referenceAllele": "C",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "ENST00000486715.5:c.952C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419038.1:p.Pro318Ser",
        "hgvsWellDefined": "ENSP00000419038.1:p.Pro318Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS325458"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826928283",
      "coordinates": [
        {
          "allele": "T",
          "end": 1116,
          "referenceAllele": "C",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001308164.1:c.1009C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295093.1:p.Pro337Ser",
        "hgvsWellDefined": "NP_001295093.1:p.Pro337Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026187"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826928650",
      "coordinates": [
        {
          "allele": "T",
          "end": 1059,
          "referenceAllele": "C",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001308166.1:c.952C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295095.1:p.Pro318Ser",
        "hgvsWellDefined": "NP_001295095.1:p.Pro318Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026189"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830048496",
      "coordinates": [
        {
          "allele": "T",
          "end": 1059,
          "referenceAllele": "C",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_024996.5:c.952C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079272.4:p.Pro318Ser",
        "hgvsWellDefined": "NP_079272.4:p.Pro318Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "XM_006713795.1:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713858.1:p.Pro279Ser",
        "hgvsWellDefined": "XP_006713858.1:p.Pro279Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 946,
          "referenceAllele": "C",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "XM_006713795.2:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713858.1:p.Pro279Ser",
        "hgvsWellDefined": "XP_006713858.1:p.Pro279Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828506559",
      "coordinates": [
        {
          "allele": "T",
          "end": 1117,
          "referenceAllele": "C",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374355.1:c.1009C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361284.1:p.Pro337Ser",
        "hgvsWellDefined": "NP_001361284.1:p.Pro337Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693242"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828506922",
      "coordinates": [
        {
          "allele": "T",
          "end": 943,
          "referenceAllele": "C",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374356.1:c.835C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361285.1:p.Pro279Ser",
        "hgvsWellDefined": "NP_001361285.1:p.Pro279Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693243"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828507279",
      "coordinates": [
        {
          "allele": "T",
          "end": 1226,
          "referenceAllele": "C",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374357.1:c.727C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361286.1:p.Pro243Ser",
        "hgvsWellDefined": "NP_001361286.1:p.Pro243Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693244"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828507613",
      "coordinates": [
        {
          "allele": "T",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374358.1:c.493C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361287.1:p.Pro165Ser",
        "hgvsWellDefined": "NP_001361287.1:p.Pro165Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828507935",
      "coordinates": [
        {
          "allele": "T",
          "end": 722,
          "referenceAllele": "C",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374359.1:c.385C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361288.1:p.Pro129Ser",
        "hgvsWellDefined": "NP_001361288.1:p.Pro129Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693246"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828508237",
      "coordinates": [
        {
          "allele": "T",
          "end": 722,
          "referenceAllele": "C",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374360.1:c.385C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361289.1:p.Pro129Ser",
        "hgvsWellDefined": "NP_001361289.1:p.Pro129Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139743362",
      "coordinates": [
        {
          "allele": "T",
          "end": 605,
          "referenceAllele": "C",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001374361.1:c.268C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361290.1:p.Pro90Ser",
        "hgvsWellDefined": "NP_001361290.1:p.Pro90Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693248"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830048496",
      "coordinates": [
        {
          "allele": "T",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_024996.7:c.952C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079272.4:p.Pro318Ser",
        "hgvsWellDefined": "NP_079272.4:p.Pro318Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698799",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000486715.6:c.952C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024996.7:c.952C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419038.1:p.Pro318Ser"
          },
          "RefSeq": {
            "hgvs": "NP_079272.4:p.Pro318Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NR_164499.1:n.1060C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NR_164500.1:n.1060C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 605,
          "referenceAllele": "C",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NR_164501.1:n.605C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 939,
          "referenceAllele": "C",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NR_164502.1:n.939C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826928283",
      "coordinates": [
        {
          "allele": "T",
          "end": 1117,
          "referenceAllele": "C",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001308164.2:c.1009C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295093.1:p.Pro337Ser",
        "hgvsWellDefined": "NP_001295093.1:p.Pro337Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717234"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826928650",
      "coordinates": [
        {
          "allele": "T",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013780",
      "geneNCBI_id": 85476,
      "geneSymbol": "GFM1",
      "hgvs": [
        "NM_001308166.2:c.952C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295095.1:p.Pro318Ser",
        "hgvsWellDefined": "NP_001295095.1:p.Pro318Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717236"
    }
  ],
  "type": "nucleotide"
}