{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6221082",
  "communityStandardTitle": [
    "NM_000372.5(TYR):c.316G>C (p.Gly106Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1487008[alleleid]",
        "alleleId": 1487008,
        "preferredName": "NM_000372.5(TYR):c.316G>C (p.Gly106Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1406950",
        "RCV": [
          "RCV001918188"
        ],
        "variationId": 1406950
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-88911437-G-C",
        "id": "11-88911437-G-C",
        "variant": "11:88911437 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.88911437G>C?assembly=hg19",
        "id": "chr11:g.88911437G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.89178269G>C?assembly=hg38",
        "id": "chr11:g.89178269G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/759163678",
        "rs": 759163678
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-88911437-G-C?dataset=gnomad_r2_1",
        "id": "11-88911437-G-C",
        "variant": "11:88911437 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-89178269-G-C?dataset=gnomad_r3",
        "id": "11-89178269-G-C",
        "variant": "11:89178269 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-89178269-G-C?dataset=gnomad_r4",
        "id": "11-89178269-G-C",
        "variant": "11:89178269 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 89178269,
          "referenceAllele": "G",
          "start": 89178268
        }
      ],
      "hgvs": [
        "NC_000011.10:g.89178269G>C",
        "CM000673.2:g.89178269G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 88911437,
          "referenceAllele": "G",
          "start": 88911436
        }
      ],
      "hgvs": [
        "NC_000011.9:g.88911437G>C",
        "CM000673.1:g.88911437G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 88551085,
          "referenceAllele": "G",
          "start": 88551084
        }
      ],
      "hgvs": [
        "NC_000011.8:g.88551085G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5398,
          "referenceAllele": "G",
          "start": 5397
        }
      ],
      "hgvs": [
        "NG_008748.1:g.5398G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001197"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 395,
          "referenceAllele": "G",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "ENST00000263321.6:c.316G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263321.4:p.Gly106Arg",
        "hgvsWellDefined": "ENSP00000263321.4:p.Gly106Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742496",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263321.6:c.316G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000372.5:c.316G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263321.4:p.Gly106Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000363.1:p.Gly106Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 818,
          "referenceAllele": "G",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "ENST00000263321.5:c.316G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263321.4:p.Gly106Arg",
        "hgvsWellDefined": "ENSP00000263321.4:p.Gly106Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251241"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 377,
          "referenceAllele": "G",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "ENST00000526139.1:n.377G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573168822",
      "coordinates": [
        {
          "allele": "C",
          "end": 398,
          "referenceAllele": "G",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "NM_000372.4:c.316G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000363.1:p.Gly106Arg",
        "hgvsWellDefined": "NP_000363.1:p.Gly106Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006434"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 412,
          "referenceAllele": "G",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "XM_011542970.1:c.316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541272.1:p.Gly106Arg",
        "hgvsWellDefined": "XP_011541272.1:p.Gly106Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109898"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "XM_011542970.2:c.316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541272.1:p.Gly106Arg",
        "hgvsWellDefined": "XP_011541272.1:p.Gly106Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2717,
          "endIntronDirection": "-",
          "endIntronOffset": 64735,
          "referenceAllele": "C",
          "start": 2717,
          "startIntronDirection": "-",
          "startIntronOffset": 64736
        }
      ],
      "hgvs": [
        "XR_001748321.1:n.2718-64736C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2732,
          "endIntronDirection": "-",
          "endIntronOffset": 64735,
          "referenceAllele": "C",
          "start": 2732,
          "startIntronDirection": "-",
          "startIntronOffset": 64736
        }
      ],
      "hgvs": [
        "XR_001748322.1:n.2733-64736C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573168822",
      "coordinates": [
        {
          "allele": "C",
          "end": 395,
          "referenceAllele": "G",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012442",
      "geneNCBI_id": 7299,
      "geneSymbol": "TYR",
      "hgvs": [
        "NM_000372.5:c.316G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000363.1:p.Gly106Arg",
        "hgvsWellDefined": "NP_000363.1:p.Gly106Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662416",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263321.6:c.316G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000372.5:c.316G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263321.4:p.Gly106Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000363.1:p.Gly106Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}