{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6620069",
  "communityStandardTitle": [
    "NM_001384361.1(PMEL):c.1112G>C (p.Ser371Thr)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-56350975-C-G",
        "id": "12-56350975-C-G",
        "variant": "12:56350975 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.56350975C>G?assembly=hg19",
        "id": "chr12:g.56350975C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.55957191C>G?assembly=hg38",
        "id": "chr12:g.55957191C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/770516374",
        "rs": 770516374
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-56350975-C-G?dataset=gnomad_r2_1",
        "id": "12-56350975-C-G",
        "variant": "12:56350975 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-55957191-C-G?dataset=gnomad_r4",
        "id": "12-55957191-C-G",
        "variant": "12:55957191 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 55957191,
          "referenceAllele": "C",
          "start": 55957190
        }
      ],
      "hgvs": [
        "NC_000012.12:g.55957191C>G",
        "CM000674.2:g.55957191C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 56350975,
          "referenceAllele": "C",
          "start": 56350974
        }
      ],
      "hgvs": [
        "NC_000012.11:g.56350975C>G",
        "CM000674.1:g.56350975C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 54637242,
          "referenceAllele": "C",
          "start": 54637241
        }
      ],
      "hgvs": [
        "NC_000012.10:g.54637242C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14522,
          "referenceAllele": "G",
          "start": 14521
        }
      ],
      "hgvs": [
        "NG_028086.1:g.14522G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004066"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1143,
          "referenceAllele": "G",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "ENST00000548747.6:c.1112G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448828.1:p.Ser371Thr",
        "hgvsWellDefined": "ENSP00000448828.1:p.Ser371Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759911",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000548747.6:c.1112G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001384361.1:c.1112G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448828.1:p.Ser371Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001371290.1:p.Ser371Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1123,
          "referenceAllele": "G",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "ENST00000449260.6:c.1112G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402758.2:p.Ser371Thr",
        "hgvsWellDefined": "ENSP00000402758.2:p.Ser371Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 965,
          "referenceAllele": "G",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "ENST00000547137.5:c.950G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448849.1:p.Ser317Thr",
        "hgvsWellDefined": "ENSP00000448849.1:p.Ser317Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1222,
          "referenceAllele": "G",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "ENST00000548493.5:c.1112G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447374.1:p.Ser371Thr",
        "hgvsWellDefined": "ENSP00000447374.1:p.Ser371Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1775,
          "referenceAllele": "G",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "ENST00000548747.5:c.1112G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448828.1:p.Ser371Thr",
        "hgvsWellDefined": "ENSP00000448828.1:p.Ser371Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367040"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 672,
          "referenceAllele": "G",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "ENST00000548803.5:c.665G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447732.1:p.Ser222Thr",
        "hgvsWellDefined": "ENSP00000447732.1:p.Ser222Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 774,
          "referenceAllele": "G",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "ENST00000549404.5:c.774G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367444"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 152,
          "referenceAllele": "G",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "ENST00000549564.1:n.152G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367543"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 372,
          "endIntronDirection": "+",
          "endIntronOffset": 1282,
          "referenceAllele": "G",
          "start": 372,
          "startIntronDirection": "+",
          "startIntronOffset": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "ENST00000550447.5:c.358+1282G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448029.1:n.358+1282G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 885,
          "referenceAllele": "G",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "ENST00000550464.5:c.854G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450036.1:p.Ser285Thr",
        "hgvsWellDefined": "ENSP00000450036.1:p.Ser285Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "referenceAllele": "G",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "ENST00000552882.5:c.1112G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449690.1:p.Ser371Thr",
        "hgvsWellDefined": "ENSP00000449690.1:p.Ser371Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 905,
          "referenceAllele": "G",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "NM_001200053.1:c.854G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186982.1:p.Ser285Thr",
        "hgvsWellDefined": "NP_001186982.1:p.Ser285Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017309"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1163,
          "referenceAllele": "G",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "NM_001200054.1:c.1112G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186983.1:p.Ser371Thr",
        "hgvsWellDefined": "NP_001186983.1:p.Ser371Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017310"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079640326",
      "coordinates": [
        {
          "allele": "C",
          "end": 1198,
          "referenceAllele": "G",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "NM_006928.4:c.1112G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008859.1:p.Ser371Thr",
        "hgvsWellDefined": "NP_008859.1:p.Ser371Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031901"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1775,
          "referenceAllele": "G",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "XM_006719569.1:c.1112G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719632.1:p.Ser371Thr",
        "hgvsWellDefined": "XP_006719632.1:p.Ser371Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1227,
          "referenceAllele": "G",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "XM_011538685.1:c.1112G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536987.1:p.Ser371Thr",
        "hgvsWellDefined": "XP_011536987.1:p.Ser371Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105640"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1775,
          "referenceAllele": "G",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "XM_011538686.1:c.1112G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536988.1:p.Ser371Thr",
        "hgvsWellDefined": "XP_011536988.1:p.Ser371Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105641"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1775,
          "referenceAllele": "G",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "XM_011538687.1:c.1112G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536989.1:p.Ser371Thr",
        "hgvsWellDefined": "XP_011536989.1:p.Ser371Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1163,
          "referenceAllele": "G",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "NM_001320121.1:c.1112G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307050.1:p.Ser371Thr",
        "hgvsWellDefined": "NP_001307050.1:p.Ser371Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513462"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1163,
          "referenceAllele": "G",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "NM_001320122.1:c.1112G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307051.1:p.Ser371Thr",
        "hgvsWellDefined": "NP_001307051.1:p.Ser371Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513463"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1143,
          "referenceAllele": "G",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "NM_001384361.1:c.1112G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371290.1:p.Ser371Thr",
        "hgvsWellDefined": "NP_001371290.1:p.Ser371Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722765",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000548747.6:c.1112G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001384361.1:c.1112G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448828.1:p.Ser371Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001371290.1:p.Ser371Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079640326",
      "coordinates": [
        {
          "allele": "C",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010880",
      "geneNCBI_id": 6490,
      "geneSymbol": "PMEL",
      "hgvs": [
        "NM_006928.5:c.1112G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008859.1:p.Ser371Thr",
        "hgvsWellDefined": "NP_008859.1:p.Ser371Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727788"
    }
  ],
  "type": "nucleotide"
}