{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA356577336",
  "communityStandardTitle": [
    "NM_000730.3(CCKAR):c.1093G>C (p.Val365Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.26483454C>G?assembly=hg19",
        "id": "chr4:g.26483454C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.26481832C>G?assembly=hg38",
        "id": "chr4:g.26481832C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/52795588",
        "rs": 52795588
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-26483454-C-G?dataset=gnomad_r2_1",
        "id": "4-26483454-C-G",
        "variant": "4:26483454 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-26481832-C-G?dataset=gnomad_r4",
        "id": "4-26481832-C-G",
        "variant": "4:26481832 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 26481832,
          "referenceAllele": "C",
          "start": 26481831
        }
      ],
      "hgvs": [
        "NC_000004.12:g.26481832C>G",
        "CM000666.2:g.26481832C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 26483454,
          "referenceAllele": "C",
          "start": 26483453
        }
      ],
      "hgvs": [
        "NC_000004.11:g.26483454C>G",
        "CM000666.1:g.26483454C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 26092552,
          "referenceAllele": "C",
          "start": 26092551
        }
      ],
      "hgvs": [
        "NC_000004.10:g.26092552C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13589,
          "referenceAllele": "G",
          "start": 13588
        }
      ],
      "hgvs": [
        "NG_012053.1:g.13589G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002139"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1310,
          "referenceAllele": "G",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001570",
      "geneNCBI_id": 886,
      "geneSymbol": "CCKAR",
      "hgvs": [
        "ENST00000295589.4:c.1093G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295589.3:p.Val365Leu",
        "hgvsWellDefined": "ENSP00000295589.3:p.Val365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295589.4:c.1093G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000730.3:c.1093G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295589.3:p.Val365Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000721.1:p.Val365Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1288,
          "referenceAllele": "G",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001570",
      "geneNCBI_id": 886,
      "geneSymbol": "CCKAR",
      "hgvs": [
        "ENST00000295589.3:c.1093G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295589.3:p.Val365Leu",
        "hgvsWellDefined": "ENSP00000295589.3:p.Val365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069878681",
      "coordinates": [
        {
          "allele": "C",
          "end": 1246,
          "referenceAllele": "G",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001570",
      "geneNCBI_id": 886,
      "geneSymbol": "CCKAR",
      "hgvs": [
        "NM_000730.2:c.1093G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000721.1:p.Val365Leu",
        "hgvsWellDefined": "NP_000721.1:p.Val365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006766"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069878681",
      "coordinates": [
        {
          "allele": "C",
          "end": 1310,
          "referenceAllele": "G",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001570",
      "geneNCBI_id": 886,
      "geneSymbol": "CCKAR",
      "hgvs": [
        "NM_000730.3:c.1093G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000721.1:p.Val365Leu",
        "hgvsWellDefined": "NP_000721.1:p.Val365Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674936",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295589.4:c.1093G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000730.3:c.1093G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295589.3:p.Val365Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000721.1:p.Val365Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}