{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA250016",
  "communityStandardTitle": [
    "NM_020223.4(FAM20C):c.1364-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16067[alleleid]",
        "alleleId": 16067,
        "preferredName": "NM_020223.4(FAM20C):c.1364-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1028",
        "RCV": [
          "RCV000001083"
        ],
        "variationId": 1028
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.296969A>G?assembly=hg19",
        "id": "chr7:g.296969A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.257003A>G?assembly=hg38",
        "id": "chr7:g.257003A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/796051853",
        "rs": 796051853
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-257003-A-G?dataset=gnomad_r4",
        "id": "7-257003-A-G",
        "variant": "7:257003 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 257003,
          "referenceAllele": "A",
          "start": 257002
        }
      ],
      "hgvs": [
        "NC_000007.14:g.257003A>G",
        "CM000669.2:g.257003A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 296969,
          "referenceAllele": "A",
          "start": 296968
        }
      ],
      "hgvs": [
        "NC_000007.13:g.296969A>G",
        "CM000669.1:g.296969A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 66639,
          "referenceAllele": "A",
          "start": 66638
        }
      ],
      "hgvs": [
        "NG_033970.1:g.66639A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005643"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1992,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1992,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "ENST00000313766.6:c.1364-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322323.5:n.1364-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745883",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313766.6:c.1364-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_020223.4:c.1364-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322323.5:n.1364-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_064608.2:n.1364-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1594,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1594,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "ENST00000313766.5:c.1364-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322323.5:n.1364-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 569,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 569,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "ENST00000512382.1:n.570-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS342414"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1020,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "ENST00000515795.1:n.1021-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344934"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1594,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1594,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "NM_020223.3:c.1364-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_064608.2:n.1364-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1510,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1510,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "XR_242097.3:n.1511-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1850,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1850,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "XM_017012450.1:c.1625-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867939.1:n.1625-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566062"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1847,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1847,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "XM_017012451.1:c.1622-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867940.1:n.1622-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4397,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4397,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "XM_017012455.2:c.662-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867944.1:n.662-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1992,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1992,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022140",
      "geneNCBI_id": 56975,
      "geneSymbol": "FAM20C",
      "hgvs": [
        "NM_020223.4:c.1364-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_064608.2:n.1364-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669934",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313766.6:c.1364-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_020223.4:c.1364-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322323.5:n.1364-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_064608.2:n.1364-2A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}