{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA116839",
  "communityStandardTitle": [
    "NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19438[alleleid]",
        "alleleId": 19438,
        "preferredName": "NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4399",
        "RCV": [
          "RCV000004649",
          "RCV000414238",
          "RCV001075346",
          "RCV001273484",
          "RCV002468960",
          "RCV003466815"
        ],
        "variationId": 4399
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-150690378-A-C",
        "id": "3-150690378-A-C",
        "variant": "3:150690378 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.150690378A>C?assembly=hg19",
        "id": "chr3:g.150690378A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.150972591A>C?assembly=hg38",
        "id": "chr3:g.150972591A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908143",
        "rs": 121908143
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-150690378-A-C?dataset=gnomad_r2_1",
        "id": "3-150690378-A-C",
        "variant": "3:150690378 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-150972591-A-C?dataset=gnomad_r3",
        "id": "3-150972591-A-C",
        "variant": "3:150972591 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-150972591-A-C?dataset=gnomad_r4",
        "id": "3-150972591-A-C",
        "variant": "3:150972591 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 150972591,
          "referenceAllele": "A",
          "start": 150972590
        }
      ],
      "hgvs": [
        "NC_000003.12:g.150972591A>C",
        "CM000665.2:g.150972591A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 150690378,
          "referenceAllele": "A",
          "start": 150690377
        }
      ],
      "hgvs": [
        "NC_000003.11:g.150690378A>C",
        "CM000665.1:g.150690378A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 152173068,
          "referenceAllele": "A",
          "start": 152173067
        }
      ],
      "hgvs": [
        "NC_000003.10:g.152173068A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5409,
          "referenceAllele": "T",
          "start": 5408
        }
      ],
      "hgvs": [
        "NG_009168.1:g.5409T>G",
        "LRG_700:g.5409T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001460"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 137,
          "referenceAllele": "T",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012605",
      "geneNCBI_id": 7401,
      "geneSymbol": "CLRN1",
      "hgvs": [
        "ENST00000327047.6:c.118T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322280.1:p.Cys40Gly",
        "hgvsWellDefined": "ENSP00000322280.1:p.Cys40Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327047.6:c.118T>G"
          },
          "RefSeq": {
            "hgvs": "NM_174878.3:c.118T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322280.1:p.Cys40Gly"
          },
          "RefSeq": {
            "hgvs": "NP_777367.1:p.Cys40Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 94,
          "referenceAllele": "T",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012605",
      "geneNCBI_id": 7401,
      "geneSymbol": "CLRN1",
      "hgvs": [
        "ENST00000468836.2:c.94T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419892.2:p.Cys32Gly",
        "hgvsWellDefined": "ENSP00000419892.2:p.Cys32Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 409,
          "referenceAllele": "T",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012605",
      "geneNCBI_id": 7401,
      "geneSymbol": "CLRN1",
      "hgvs": [
        "ENST00000327047.5:c.118T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322280.1:p.Cys40Gly",
        "hgvsWellDefined": "ENSP00000322280.1:p.Cys40Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258710"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 118,
          "referenceAllele": "T",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012605",
      "geneNCBI_id": 7401,
      "geneSymbol": "CLRN1",
      "hgvs": [
        "ENST00000328863.8:c.118T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329158.4:p.Cys40Gly",
        "hgvsWellDefined": "ENSP00000329158.4:p.Cys40Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 94,
          "referenceAllele": "T",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012605",
      "geneNCBI_id": 7401,
      "geneSymbol": "CLRN1",
      "hgvs": [
        "ENST00000468836.1:c.-283T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419892.1:n.-283T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311660"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 124,
          "referenceAllele": "T",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012605",
      "geneNCBI_id": 7401,
      "geneSymbol": "CLRN1",
      "hgvs": [
        "ENST00000472224.1:n.124T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314255"
    },
    {
      "@id": "http://reg.genome.network/allele/PA116841",
      "coordinates": [
        {
          "allele": "G",
          "end": 409,
          "referenceAllele": "T",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012605",
      "geneNCBI_id": 7401,
      "geneSymbol": "CLRN1",
      "hgvs": [
        "NM_001195794.1:c.118T>G",
        "LRG_700t1:c.118T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182723.1:p.Cys40Gly",
        "hgvsWellDefined": "NP_001182723.1:p.Cys40Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA116842",
      "coordinates": [
        {
          "allele": "G",
          "end": 409,
          "referenceAllele": "T",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012605",
      "geneNCBI_id": 7401,
      "geneSymbol": "CLRN1",
      "hgvs": [
        "NM_001256819.1:c.118T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243748.1:p.Cys40Gly",
        "hgvsWellDefined": "NP_001243748.1:p.Cys40Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105412",
      "coordinates": [
        {
          "allele": "G",
          "end": 409,
          "referenceAllele": "T",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012605",
      "geneNCBI_id": 7401,
      "geneSymbol": "CLRN1",
      "hgvs": [
        "NM_174878.2:c.118T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_777367.1:p.Cys40Gly",
        "hgvsWellDefined": "NP_777367.1:p.Cys40Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043064"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 409,
          "referenceAllele": "T",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012605",
      "geneNCBI_id": 7401,
      "geneSymbol": "CLRN1",
      "hgvs": [
        "NR_046380.2:n.409T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 430,
          "referenceAllele": "T",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012605",
      "geneNCBI_id": 7401,
      "geneSymbol": "CLRN1",
      "hgvs": [
        "XR_924167.1:n.430T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121227"
    },
    {
      "@id": "http://reg.genome.network/allele/PA116842",
      "coordinates": [
        {
          "allele": "G",
          "end": 137,
          "referenceAllele": "T",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012605",
      "geneNCBI_id": 7401,
      "geneSymbol": "CLRN1",
      "hgvs": [
        "NM_001256819.2:c.118T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243748.1:p.Cys40Gly",
        "hgvsWellDefined": "NP_001243748.1:p.Cys40Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105412",
      "coordinates": [
        {
          "allele": "G",
          "end": 137,
          "referenceAllele": "T",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012605",
      "geneNCBI_id": 7401,
      "geneSymbol": "CLRN1",
      "hgvs": [
        "NM_174878.3:c.118T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_777367.1:p.Cys40Gly",
        "hgvsWellDefined": "NP_777367.1:p.Cys40Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700666",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327047.6:c.118T>G"
          },
          "RefSeq": {
            "hgvs": "NM_174878.3:c.118T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322280.1:p.Cys40Gly"
          },
          "RefSeq": {
            "hgvs": "NP_777367.1:p.Cys40Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 137,
          "referenceAllele": "T",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012605",
      "geneNCBI_id": 7401,
      "geneSymbol": "CLRN1",
      "hgvs": [
        "NR_046380.3:n.137T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702481"
    }
  ],
  "type": "nucleotide"
}