{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA117862",
  "communityStandardTitle": [
    "NM_006580.4(CLDN16):c.2T>G (p.Met1Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20968[alleleid]",
        "alleleId": 20968,
        "preferredName": "NM_006580.4(CLDN16):c.2T>G (p.Met1Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5929",
        "RCV": [
          "RCV000006292"
        ],
        "variationId": 5929
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.190106120T>G?assembly=hg19",
        "id": "chr3:g.190106120T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.190388331T>G?assembly=hg38",
        "id": "chr3:g.190388331T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893724",
        "rs": 104893724
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 190388331,
          "referenceAllele": "T",
          "start": 190388330
        }
      ],
      "hgvs": [
        "NC_000003.12:g.190388331T>G",
        "CM000665.2:g.190388331T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 190106120,
          "referenceAllele": "T",
          "start": 190106119
        }
      ],
      "hgvs": [
        "NC_000003.11:g.190106120T>G",
        "CM000665.1:g.190106120T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 191588814,
          "referenceAllele": "T",
          "start": 191588813
        }
      ],
      "hgvs": [
        "NC_000003.10:g.191588814T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5280,
          "referenceAllele": "T",
          "start": 5279
        }
      ],
      "hgvs": [
        "NG_008149.1:g.5280T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000895"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 169,
          "referenceAllele": "T",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002037",
      "geneNCBI_id": 10686,
      "geneSymbol": "CLDN16",
      "hgvs": [
        "ENST00000264734.3:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264734.3:p.Met1Arg",
        "hgvsWellDefined": "ENSP00000264734.3:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742723",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264734.3:c.2T>G"
          },
          "RefSeq": {
            "hgvs": "NM_006580.4:c.2T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264734.3:p.Met1Arg"
          },
          "RefSeq": {
            "hgvs": "NP_006571.2:p.Met1Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 212,
          "referenceAllele": "T",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002037",
      "geneNCBI_id": 10686,
      "geneSymbol": "CLDN16",
      "hgvs": [
        "ENST00000456423.2:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414136.2:p.Met1Arg",
        "hgvsWellDefined": "ENSP00000414136.2:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 460,
          "referenceAllele": "T",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002037",
      "geneNCBI_id": 10686,
      "geneSymbol": "CLDN16",
      "hgvs": [
        "ENST00000264734.2:c.212T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264734.2:p.Met71Arg",
        "hgvsWellDefined": "ENSP00000264734.2:p.Met71Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 212,
          "referenceAllele": "T",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002037",
      "geneNCBI_id": 10686,
      "geneSymbol": "CLDN16",
      "hgvs": [
        "ENST00000456423.1:c.212T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414136.1:p.Met71Arg",
        "hgvsWellDefined": "ENSP00000414136.1:p.Met71Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303484"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 306,
          "endIntronDirection": "+",
          "endIntronOffset": 13728,
          "referenceAllele": "T",
          "start": 306,
          "startIntronDirection": "+",
          "startIntronOffset": 13727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002037",
      "geneNCBI_id": 10686,
      "geneSymbol": "CLDN16",
      "hgvs": [
        "ENST00000468220.1:n.306+13728T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110609",
      "coordinates": [
        {
          "allele": "G",
          "end": 460,
          "referenceAllele": "T",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002037",
      "geneNCBI_id": 10686,
      "geneSymbol": "CLDN16",
      "hgvs": [
        "NM_006580.3:c.212T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006571.1:p.Met71Arg",
        "hgvsWellDefined": "NP_006571.1:p.Met71Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828782612",
      "coordinates": [
        {
          "allele": "G",
          "end": 678,
          "referenceAllele": "T",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002037",
      "geneNCBI_id": 10686,
      "geneSymbol": "CLDN16",
      "hgvs": [
        "NM_001378492.1:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365421.1:p.Met1Arg",
        "hgvsWellDefined": "NP_001365421.1:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828782710",
      "coordinates": [
        {
          "allele": "G",
          "end": 511,
          "referenceAllele": "T",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002037",
      "geneNCBI_id": 10686,
      "geneSymbol": "CLDN16",
      "hgvs": [
        "NM_001378493.1:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365422.1:p.Met1Arg",
        "hgvsWellDefined": "NP_001365422.1:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573088765",
      "coordinates": [
        {
          "allele": "G",
          "end": 169,
          "referenceAllele": "T",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002037",
      "geneNCBI_id": 10686,
      "geneSymbol": "CLDN16",
      "hgvs": [
        "NM_006580.4:c.2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006571.2:p.Met1Arg",
        "hgvsWellDefined": "NP_006571.2:p.Met1Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727756",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264734.3:c.2T>G"
          },
          "RefSeq": {
            "hgvs": "NM_006580.4:c.2T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264734.3:p.Met1Arg"
          },
          "RefSeq": {
            "hgvs": "NP_006571.2:p.Met1Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}