{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA398235978",
  "communityStandardTitle": [
    "NM_201433.2(GAS7):c.58G>C (p.Gly20Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.10101650C>G?assembly=hg19",
        "id": "chr17:g.10101650C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.10198333C>G?assembly=hg38",
        "id": "chr17:g.10198333C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 10198333,
          "referenceAllele": "C",
          "start": 10198332
        }
      ],
      "hgvs": [
        "NC_000017.11:g.10198333C>G",
        "CM000679.2:g.10198333C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 10101650,
          "referenceAllele": "C",
          "start": 10101649
        }
      ],
      "hgvs": [
        "NC_000017.10:g.10101650C>G",
        "CM000679.1:g.10101650C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 10042375,
          "referenceAllele": "C",
          "start": 10042374
        }
      ],
      "hgvs": [
        "NC_000017.9:g.10042375C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5219,
          "referenceAllele": "G",
          "start": 5218
        }
      ],
      "hgvs": [
        "NG_029502.1:g.5219G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5219,
          "referenceAllele": "G",
          "start": 5218
        }
      ],
      "hgvs": [
        "NG_029502.2:g.5219G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673787"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 274,
          "referenceAllele": "G",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004169",
      "geneNCBI_id": 8522,
      "geneSymbol": "GAS7",
      "hgvs": [
        "ENST00000432992.7:c.58G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407552.2:p.Gly20Arg",
        "hgvsWellDefined": "ENSP00000407552.2:p.Gly20Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755435",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432992.7:c.58G>C"
          },
          "RefSeq": {
            "hgvs": "NM_201433.2:c.58G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000407552.2:p.Gly20Arg"
          },
          "RefSeq": {
            "hgvs": "NP_958839.1:p.Gly20Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 219,
          "referenceAllele": "G",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004169",
      "geneNCBI_id": 8522,
      "geneSymbol": "GAS7",
      "hgvs": [
        "ENST00000432992.6:c.58G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407552.2:p.Gly20Arg",
        "hgvsWellDefined": "ENSP00000407552.2:p.Gly20Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292335"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580559695",
      "coordinates": [
        {
          "allele": "C",
          "end": 219,
          "referenceAllele": "G",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004169",
      "geneNCBI_id": 8522,
      "geneSymbol": "GAS7",
      "hgvs": [
        "NM_201433.1:c.58G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958839.1:p.Gly20Arg",
        "hgvsWellDefined": "NP_958839.1:p.Gly20Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580559695",
      "coordinates": [
        {
          "allele": "C",
          "end": 274,
          "referenceAllele": "G",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004169",
      "geneNCBI_id": 8522,
      "geneSymbol": "GAS7",
      "hgvs": [
        "NM_201433.2:c.58G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958839.1:p.Gly20Arg",
        "hgvsWellDefined": "NP_958839.1:p.Gly20Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701546",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432992.7:c.58G>C"
          },
          "RefSeq": {
            "hgvs": "NM_201433.2:c.58G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000407552.2:p.Gly20Arg"
          },
          "RefSeq": {
            "hgvs": "NP_958839.1:p.Gly20Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}