{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA250578",
  "communityStandardTitle": [
    "NM_000180.4(GUCY2D):c.2846T>C (p.Ile949Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24398[alleleid]",
        "alleleId": 24398,
        "preferredName": "NM_000180.4(GUCY2D):c.2846T>C (p.Ile949Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9359",
        "RCV": [
          "RCV000009953"
        ],
        "variationId": 9359
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7918722T>C?assembly=hg19",
        "id": "chr17:g.7918722T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.8015404T>C?assembly=hg38",
        "id": "chr17:g.8015404T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267606857",
        "rs": 267606857
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 8015404,
          "referenceAllele": "T",
          "start": 8015403
        }
      ],
      "hgvs": [
        "NC_000017.11:g.8015404T>C",
        "CM000679.2:g.8015404T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 7918722,
          "referenceAllele": "T",
          "start": 7918721
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7918722T>C",
        "CM000679.1:g.7918722T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 7859447,
          "referenceAllele": "T",
          "start": 7859446
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7859447T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17735,
          "referenceAllele": "T",
          "start": 17734
        }
      ],
      "hgvs": [
        "NG_009092.1:g.17735T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001425"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2975,
          "referenceAllele": "T",
          "start": 2974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "ENST00000254854.5:c.2846T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254854.4:p.Ile949Thr",
        "hgvsWellDefined": "ENSP00000254854.4:p.Ile949Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741685",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254854.5:c.2846T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000180.4:c.2846T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254854.4:p.Ile949Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000171.1:p.Ile949Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2996,
          "referenceAllele": "T",
          "start": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "ENST00000254854.4:c.2846T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254854.4:p.Ile949Thr",
        "hgvsWellDefined": "ENSP00000254854.4:p.Ile949Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101542",
      "coordinates": [
        {
          "allele": "C",
          "end": 2920,
          "referenceAllele": "T",
          "start": 2919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NM_000180.3:c.2846T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000171.1:p.Ile949Thr",
        "hgvsWellDefined": "NP_000171.1:p.Ile949Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006242"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2846,
          "referenceAllele": "T",
          "start": 2845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "XM_011523816.1:c.2846T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522118.1:p.Ile949Thr",
        "hgvsWellDefined": "XP_011522118.1:p.Ile949Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090949"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101542",
      "coordinates": [
        {
          "allele": "C",
          "end": 2975,
          "referenceAllele": "T",
          "start": 2974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NM_000180.4:c.2846T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000171.1:p.Ile949Thr",
        "hgvsWellDefined": "NP_000171.1:p.Ile949Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254854.5:c.2846T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000180.4:c.2846T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254854.4:p.Ile949Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000171.1:p.Ile949Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}