{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA624867857",
  "communityStandardTitle": [
    "NM_000180.4(GUCY2D):c.1956+11G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3101300[alleleid]",
        "alleleId": 3101300,
        "preferredName": "NM_000180.4(GUCY2D):c.1956+11G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2944129",
        "RCV": [
          "RCV003805879"
        ],
        "variationId": 2944129
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7915679G>C?assembly=hg19",
        "id": "chr17:g.7915679G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.8012361G>C?assembly=hg38",
        "id": "chr17:g.8012361G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1179230445",
        "rs": 1179230445
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7915679-G-C?dataset=gnomad_r2_1",
        "id": "17-7915679-G-C",
        "variant": "17:7915679 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8012361-G-C?dataset=gnomad_r4",
        "id": "17-8012361-G-C",
        "variant": "17:8012361 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 8012361,
          "referenceAllele": "G",
          "start": 8012360
        }
      ],
      "hgvs": [
        "NC_000017.11:g.8012361G>C",
        "CM000679.2:g.8012361G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 7915679,
          "referenceAllele": "G",
          "start": 7915678
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7915679G>C",
        "CM000679.1:g.7915679G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 7856404,
          "referenceAllele": "G",
          "start": 7856403
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7856404G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14692,
          "referenceAllele": "G",
          "start": 14691
        }
      ],
      "hgvs": [
        "NG_009092.1:g.14692G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001425"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2085,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "G",
          "start": 2085,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "ENST00000254854.5:c.1956+11G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254854.4:n.1956+11G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741685",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254854.5:c.1956+11G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000180.4:c.1956+11G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254854.4:n.1956+11G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000171.1:n.1956+11G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2106,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "G",
          "start": 2106,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "ENST00000254854.4:c.1956+11G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254854.4:n.1956+11G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2030,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "G",
          "start": 2030,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NM_000180.3:c.1956+11G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000171.1:n.1956+11G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006242"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1956,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "G",
          "start": 1956,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "XM_011523816.1:c.1956+11G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522118.1:n.1956+11G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2085,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "G",
          "start": 2085,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NM_000180.4:c.1956+11G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000171.1:n.1956+11G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254854.5:c.1956+11G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000180.4:c.1956+11G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254854.4:n.1956+11G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000171.1:n.1956+11G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}