{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397953631",
  "communityStandardTitle": [
    "NM_000180.4(GUCY2D):c.2516C>A (p.Thr839Lys)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7918022C>A?assembly=hg19",
        "id": "chr17:g.7918022C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.8014704C>A?assembly=hg38",
        "id": "chr17:g.8014704C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61750174",
        "rs": 61750174
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7918022-C-A?dataset=gnomad_r2_1",
        "id": "17-7918022-C-A",
        "variant": "17:7918022 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8014704-C-A?dataset=gnomad_r4",
        "id": "17-8014704-C-A",
        "variant": "17:8014704 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 8014704,
          "referenceAllele": "C",
          "start": 8014703
        }
      ],
      "hgvs": [
        "NC_000017.11:g.8014704C>A",
        "CM000679.2:g.8014704C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 7918022,
          "referenceAllele": "C",
          "start": 7918021
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7918022C>A",
        "CM000679.1:g.7918022C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 7858747,
          "referenceAllele": "C",
          "start": 7858746
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7858747C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17035,
          "referenceAllele": "C",
          "start": 17034
        }
      ],
      "hgvs": [
        "NG_009092.1:g.17035C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001425"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2645,
          "referenceAllele": "C",
          "start": 2644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "ENST00000254854.5:c.2516C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254854.4:p.Thr839Lys",
        "hgvsWellDefined": "ENSP00000254854.4:p.Thr839Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741685",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254854.5:c.2516C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000180.4:c.2516C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254854.4:p.Thr839Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000171.1:p.Thr839Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2666,
          "referenceAllele": "C",
          "start": 2665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "ENST00000254854.4:c.2516C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254854.4:p.Thr839Lys",
        "hgvsWellDefined": "ENSP00000254854.4:p.Thr839Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083961913",
      "coordinates": [
        {
          "allele": "A",
          "end": 2590,
          "referenceAllele": "C",
          "start": 2589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NM_000180.3:c.2516C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000171.1:p.Thr839Lys",
        "hgvsWellDefined": "NP_000171.1:p.Thr839Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2516,
          "referenceAllele": "C",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "XM_011523816.1:c.2516C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522118.1:p.Thr839Lys",
        "hgvsWellDefined": "XP_011522118.1:p.Thr839Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090949"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083961913",
      "coordinates": [
        {
          "allele": "A",
          "end": 2645,
          "referenceAllele": "C",
          "start": 2644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NM_000180.4:c.2516C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000171.1:p.Thr839Lys",
        "hgvsWellDefined": "NP_000171.1:p.Thr839Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254854.5:c.2516C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000180.4:c.2516C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254854.4:p.Thr839Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000171.1:p.Thr839Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}