{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA130197",
  "communityStandardTitle": [
    "NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31062[alleleid]",
        "alleleId": 31062,
        "preferredName": "NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16023",
        "RCV": [
          "RCV000255385",
          "RCV000190591",
          "RCV000599632",
          "RCV000662016",
          "RCV001327939",
          "RCV003330392",
          "RCV003415714",
          "RCV004018637"
        ],
        "variationId": 16023
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-68619737-T-C",
        "id": "4-68619737-T-C",
        "variant": "4:68619737 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.68619737T>C?assembly=hg19",
        "id": "chr4:g.68619737T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.67754019T>C?assembly=hg38",
        "id": "chr4:g.67754019T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893836",
        "rs": 104893836
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-68619737-T-C?dataset=gnomad_r2_1",
        "id": "4-68619737-T-C",
        "variant": "4:68619737 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-67754019-T-C?dataset=gnomad_r3",
        "id": "4-67754019-T-C",
        "variant": "4:67754019 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-67754019-T-C?dataset=gnomad_r4",
        "id": "4-67754019-T-C",
        "variant": "4:67754019 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 67754019,
          "referenceAllele": "T",
          "start": 67754018
        }
      ],
      "hgvs": [
        "NC_000004.12:g.67754019T>C",
        "CM000666.2:g.67754019T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 68619737,
          "referenceAllele": "T",
          "start": 68619736
        }
      ],
      "hgvs": [
        "NC_000004.11:g.68619737T>C",
        "CM000666.1:g.68619737T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 68302332,
          "referenceAllele": "T",
          "start": 68302331
        }
      ],
      "hgvs": [
        "NC_000004.10:g.68302332T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7068,
          "referenceAllele": "A",
          "start": 7067
        }
      ],
      "hgvs": [
        "NG_009293.1:g.7068A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001549"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004421",
      "geneNCBI_id": 2798,
      "geneSymbol": "GNRHR",
      "hgvs": [
        "ENST00000226413.5:c.317A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000226413.5:p.Gln106Arg",
        "hgvsWellDefined": "ENSP00000226413.5:p.Gln106Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740706",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000226413.5:c.317A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000406.3:c.317A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000226413.5:p.Gln106Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000397.1:p.Gln106Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 342,
          "referenceAllele": "A",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004421",
      "geneNCBI_id": 2798,
      "geneSymbol": "GNRHR",
      "hgvs": [
        "ENST00000226413.4:c.317A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000226413.4:p.Gln106Arg",
        "hgvsWellDefined": "ENSP00000226413.4:p.Gln106Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248561"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 317,
          "referenceAllele": "A",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004421",
      "geneNCBI_id": 2798,
      "geneSymbol": "GNRHR",
      "hgvs": [
        "ENST00000420975.2:c.317A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397561.2:p.Gln106Arg",
        "hgvsWellDefined": "ENSP00000397561.2:p.Gln106Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286571"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104808",
      "coordinates": [
        {
          "allele": "G",
          "end": 2068,
          "referenceAllele": "A",
          "start": 2067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004421",
      "geneNCBI_id": 2798,
      "geneSymbol": "GNRHR",
      "hgvs": [
        "NM_000406.2:c.317A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000397.1:p.Gln106Arg",
        "hgvsWellDefined": "NP_000397.1:p.Gln106Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006468"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658831210",
      "coordinates": [
        {
          "allele": "G",
          "end": 2068,
          "referenceAllele": "A",
          "start": 2067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004421",
      "geneNCBI_id": 2798,
      "geneSymbol": "GNRHR",
      "hgvs": [
        "NM_001012763.1:c.317A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012781.1:p.Gln106Arg",
        "hgvsWellDefined": "NP_001012781.1:p.Gln106Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104808",
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004421",
      "geneNCBI_id": 2798,
      "geneSymbol": "GNRHR",
      "hgvs": [
        "NM_000406.3:c.317A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000397.1:p.Gln106Arg",
        "hgvsWellDefined": "NP_000397.1:p.Gln106Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674830",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000226413.5:c.317A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000406.3:c.317A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000226413.5:p.Gln106Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000397.1:p.Gln106Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA658831210",
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004421",
      "geneNCBI_id": 2798,
      "geneSymbol": "GNRHR",
      "hgvs": [
        "NM_001012763.2:c.317A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012781.1:p.Gln106Arg",
        "hgvsWellDefined": "NP_001012781.1:p.Gln106Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675453"
    }
  ],
  "type": "nucleotide"
}