{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA366525093",
  "communityStandardTitle": [
    "NM_020223.4(FAM20C):c.1094G>A (p.Gly365Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1668244[alleleid]",
        "alleleId": 1668244,
        "preferredName": "NM_020223.4(FAM20C):c.1094G>A (p.Gly365Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1676667",
        "RCV": [
          "RCV002221985"
        ],
        "variationId": 1676667
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.295836G>A?assembly=hg19",
        "id": "chr7:g.295836G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.255870G>A?assembly=hg38",
        "id": "chr7:g.255870G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2115171312",
        "rs": 2115171312
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 255870,
          "referenceAllele": "G",
          "start": 255869
        }
      ],
      "hgvs": [
        "NC_000007.14:g.255870G>A",
        "CM000669.2:g.255870G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 295836,
          "referenceAllele": "G",
          "start": 295835
        }
      ],
      "hgvs": [
        "NC_000007.13:g.295836G>A",
        "CM000669.1:g.295836G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 65506,
          "referenceAllele": "G",
          "start": 65505
        }
      ],
      "hgvs": [
        "NG_033970.1:g.65506G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005643"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1723,
          "referenceAllele": "G",
          "start": 1722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "ENST00000313766.6:c.1094G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322323.5:p.Gly365Asp",
        "hgvsWellDefined": "ENSP00000322323.5:p.Gly365Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745883",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313766.6:c.1094G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020223.4:c.1094G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322323.5:p.Gly365Asp"
          },
          "RefSeq": {
            "hgvs": "NP_064608.2:p.Gly365Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1325,
          "referenceAllele": "G",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "ENST00000313766.5:c.1094G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322323.5:p.Gly365Asp",
        "hgvsWellDefined": "ENSP00000322323.5:p.Gly365Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "ENST00000515795.1:n.751G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344934"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573275550",
      "coordinates": [
        {
          "allele": "A",
          "end": 1325,
          "referenceAllele": "G",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "NM_020223.3:c.1094G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_064608.2:p.Gly365Asp",
        "hgvsWellDefined": "NP_064608.2:p.Gly365Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1241,
          "referenceAllele": "G",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "XR_242097.3:n.1241G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1581,
          "referenceAllele": "G",
          "start": 1580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "XM_017012450.1:c.1355G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867939.1:p.Gly452Asp",
        "hgvsWellDefined": "XP_016867939.1:p.Gly452Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1578,
          "referenceAllele": "G",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "XM_017012451.1:c.1352G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867940.1:p.Gly451Asp",
        "hgvsWellDefined": "XP_016867940.1:p.Gly451Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4128,
          "referenceAllele": "G",
          "start": 4127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "XM_017012455.2:c.392G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867944.1:p.Gly131Asp",
        "hgvsWellDefined": "XP_016867944.1:p.Gly131Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573275550",
      "coordinates": [
        {
          "allele": "A",
          "end": 1723,
          "referenceAllele": "G",
          "start": 1722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "NM_020223.4:c.1094G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_064608.2:p.Gly365Asp",
        "hgvsWellDefined": "NP_064608.2:p.Gly365Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669934",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313766.6:c.1094G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020223.4:c.1094G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322323.5:p.Gly365Asp"
          },
          "RefSeq": {
            "hgvs": "NP_064608.2:p.Gly365Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}