{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA366525923",
  "communityStandardTitle": [
    "NM_020223.4(FAM20C):c.1445G>A (p.Gly482Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3218283[alleleid]",
        "alleleId": 3218283,
        "preferredName": "NM_020223.4(FAM20C):c.1445G>A (p.Gly482Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3061677",
        "RCV": [
          "RCV003983685"
        ],
        "variationId": 3061677
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.297052G>A?assembly=hg19",
        "id": "chr7:g.297052G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.257086G>A?assembly=hg38",
        "id": "chr7:g.257086G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1461947497",
        "rs": 1461947497
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-297052-G-A?dataset=gnomad_r2_1",
        "id": "7-297052-G-A",
        "variant": "7:297052 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-257086-G-A?dataset=gnomad_r4",
        "id": "7-257086-G-A",
        "variant": "7:257086 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 257086,
          "referenceAllele": "G",
          "start": 257085
        }
      ],
      "hgvs": [
        "NC_000007.14:g.257086G>A",
        "CM000669.2:g.257086G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 297052,
          "referenceAllele": "G",
          "start": 297051
        }
      ],
      "hgvs": [
        "NC_000007.13:g.297052G>A",
        "CM000669.1:g.297052G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 66722,
          "referenceAllele": "G",
          "start": 66721
        }
      ],
      "hgvs": [
        "NG_033970.1:g.66722G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005643"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2074,
          "referenceAllele": "G",
          "start": 2073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "ENST00000313766.6:c.1445G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322323.5:p.Gly482Glu",
        "hgvsWellDefined": "ENSP00000322323.5:p.Gly482Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745883",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313766.6:c.1445G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020223.4:c.1445G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322323.5:p.Gly482Glu"
          },
          "RefSeq": {
            "hgvs": "NP_064608.2:p.Gly482Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1676,
          "referenceAllele": "G",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "ENST00000313766.5:c.1445G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322323.5:p.Gly482Glu",
        "hgvsWellDefined": "ENSP00000322323.5:p.Gly482Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 651,
          "referenceAllele": "G",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "ENST00000512382.1:n.651G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS342414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1102,
          "referenceAllele": "G",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "ENST00000515795.1:n.1102G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344934"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741968209",
      "coordinates": [
        {
          "allele": "A",
          "end": 1676,
          "referenceAllele": "G",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "NM_020223.3:c.1445G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_064608.2:p.Gly482Glu",
        "hgvsWellDefined": "NP_064608.2:p.Gly482Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1592,
          "referenceAllele": "G",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "XR_242097.3:n.1592G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1932,
          "referenceAllele": "G",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "XM_017012450.1:c.1706G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867939.1:p.Gly569Glu",
        "hgvsWellDefined": "XP_016867939.1:p.Gly569Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1929,
          "referenceAllele": "G",
          "start": 1928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "XM_017012451.1:c.1703G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867940.1:p.Gly568Glu",
        "hgvsWellDefined": "XP_016867940.1:p.Gly568Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4479,
          "referenceAllele": "G",
          "start": 4478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "XM_017012455.2:c.743G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867944.1:p.Gly248Glu",
        "hgvsWellDefined": "XP_016867944.1:p.Gly248Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741968209",
      "coordinates": [
        {
          "allele": "A",
          "end": 2074,
          "referenceAllele": "G",
          "start": 2073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "NM_020223.4:c.1445G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_064608.2:p.Gly482Glu",
        "hgvsWellDefined": "NP_064608.2:p.Gly482Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669934",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313766.6:c.1445G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020223.4:c.1445G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322323.5:p.Gly482Glu"
          },
          "RefSeq": {
            "hgvs": "NP_064608.2:p.Gly482Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}