{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8366083",
  "communityStandardTitle": [
    "NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=551586[alleleid]",
        "alleleId": 551586,
        "preferredName": "NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/560463",
        "RCV": [
          "RCV000678575",
          "RCV001003041",
          "RCV001784301",
          "RCV003768027",
          "RCV004544937"
        ],
        "variationId": 560463
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-7917237-G-A",
        "id": "17-7917237-G-A",
        "variant": "17:7917237 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7917237G>A?assembly=hg19",
        "id": "chr17:g.7917237G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.8013919G>A?assembly=hg38",
        "id": "chr17:g.8013919G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/750889782",
        "rs": 750889782
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7917237-G-A?dataset=gnomad_r2_1",
        "id": "17-7917237-G-A",
        "variant": "17:7917237 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8013919-G-A?dataset=gnomad_r3",
        "id": "17-8013919-G-A",
        "variant": "17:8013919 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8013919-G-A?dataset=gnomad_r4",
        "id": "17-8013919-G-A",
        "variant": "17:8013919 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 8013919,
          "referenceAllele": "G",
          "start": 8013918
        }
      ],
      "hgvs": [
        "NC_000017.11:g.8013919G>A",
        "CM000679.2:g.8013919G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 7917237,
          "referenceAllele": "G",
          "start": 7917236
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7917237G>A",
        "CM000679.1:g.7917237G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 7857962,
          "referenceAllele": "G",
          "start": 7857961
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7857962G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16250,
          "referenceAllele": "G",
          "start": 16249
        }
      ],
      "hgvs": [
        "NG_009092.1:g.16250G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001425"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2432,
          "referenceAllele": "G",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "ENST00000254854.5:c.2303G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254854.4:p.Arg768Gln",
        "hgvsWellDefined": "ENSP00000254854.4:p.Arg768Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741685",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254854.5:c.2303G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000180.4:c.2303G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254854.4:p.Arg768Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000171.1:p.Arg768Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2453,
          "referenceAllele": "G",
          "start": 2452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "ENST00000254854.4:c.2303G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254854.4:p.Arg768Gln",
        "hgvsWellDefined": "ENSP00000254854.4:p.Arg768Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658826820",
      "coordinates": [
        {
          "allele": "A",
          "end": 2377,
          "referenceAllele": "G",
          "start": 2376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NM_000180.3:c.2303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000171.1:p.Arg768Gln",
        "hgvsWellDefined": "NP_000171.1:p.Arg768Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2303,
          "referenceAllele": "G",
          "start": 2302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "XM_011523816.1:c.2303G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522118.1:p.Arg768Gln",
        "hgvsWellDefined": "XP_011522118.1:p.Arg768Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090949"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658826820",
      "coordinates": [
        {
          "allele": "A",
          "end": 2432,
          "referenceAllele": "G",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NM_000180.4:c.2303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000171.1:p.Arg768Gln",
        "hgvsWellDefined": "NP_000171.1:p.Arg768Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254854.5:c.2303G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000180.4:c.2303G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254854.4:p.Arg768Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000171.1:p.Arg768Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}