{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA353561959",
  "communityStandardTitle": [
    "NM_001354604.2(MITF):c.1070C>A (p.Ser357Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1192627[alleleid]",
        "alleleId": 1192627,
        "preferredName": "NM_001354604.2(MITF):c.1070C>A (p.Ser357Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1202629",
        "RCV": [
          "RCV001729950"
        ],
        "variationId": 1202629
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.70008462C>A?assembly=hg19",
        "id": "chr3:g.70008462C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.69959311C>A?assembly=hg38",
        "id": "chr3:g.69959311C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2107537096",
        "rs": 2107537096
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 69959311,
          "referenceAllele": "C",
          "start": 69959310
        }
      ],
      "hgvs": [
        "NC_000003.12:g.69959311C>A",
        "CM000665.2:g.69959311C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 70008462,
          "referenceAllele": "C",
          "start": 70008461
        }
      ],
      "hgvs": [
        "NC_000003.11:g.70008462C>A",
        "CM000665.1:g.70008462C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 70091152,
          "referenceAllele": "C",
          "start": 70091151
        }
      ],
      "hgvs": [
        "NC_000003.10:g.70091152C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 224830,
          "referenceAllele": "C",
          "start": 224829
        }
      ],
      "hgvs": [
        "NG_011631.1:g.224830C>A",
        "LRG_776:g.224830C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001866"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314589.11:c.1004C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324443.5:p.Ser335Tyr",
        "hgvsWellDefined": "ENSP00000324443.5:p.Ser335Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1323,
          "referenceAllele": "C",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000687384.1:c.1001C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510225.1:p.Ser334Tyr",
        "hgvsWellDefined": "ENSP00000510225.1:p.Ser334Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831059"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1226,
          "referenceAllele": "C",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000689390.1:n.1226C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1115,
          "referenceAllele": "C",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000693031.1:c.977C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509845.1:p.Ser326Tyr",
        "hgvsWellDefined": "ENSP00000509845.1:p.Ser326Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1028,
          "referenceAllele": "C",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000693549.1:c.1004C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509358.1:p.Ser335Tyr",
        "hgvsWellDefined": "ENSP00000509358.1:p.Ser335Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314589.10:c.1004C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324443.5:p.Ser335Tyr",
        "hgvsWellDefined": "ENSP00000324443.5:p.Ser335Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1204,
          "referenceAllele": "C",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000352241.9:c.1070C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295600.8:p.Ser357Tyr",
        "hgvsWellDefined": "ENSP00000295600.8:p.Ser357Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352241.9:c.1070C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001354604.2:c.1070C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295600.8:p.Ser357Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_001341533.1:p.Ser357Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 880,
          "referenceAllele": "C",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000394351.9:c.749C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377880.3:p.Ser250Tyr",
        "hgvsWellDefined": "ENSP00000377880.3:p.Ser250Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753248",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394351.9:c.749C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000248.4:c.749C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377880.3:p.Ser250Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000239.1:p.Ser250Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1080,
          "referenceAllele": "C",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000448226.9:c.1049C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391803.3:p.Ser350Tyr",
        "hgvsWellDefined": "ENSP00000391803.3:p.Ser350Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756165"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1168,
          "referenceAllele": "C",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000642352.1:c.1052C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494105.1:p.Ser351Tyr",
        "hgvsWellDefined": "ENSP00000494105.1:p.Ser351Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 867,
          "referenceAllele": "C",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314557.10:c.731C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324246.6:p.Ser244Tyr",
        "hgvsWellDefined": "ENSP00000324246.6:p.Ser244Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256974"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1083,
          "referenceAllele": "C",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314589.9:c.1004C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324443.5:p.Ser335Tyr",
        "hgvsWellDefined": "ENSP00000324443.5:p.Ser335Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1080,
          "referenceAllele": "C",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000328528.10:c.1049C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327867.6:p.Ser350Tyr",
        "hgvsWellDefined": "ENSP00000327867.6:p.Ser350Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1215,
          "referenceAllele": "C",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000352241.8:c.1052C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295600.7:p.Ser351Tyr",
        "hgvsWellDefined": "ENSP00000295600.7:p.Ser351Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262847"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000394351.7:c.749C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377880.3:p.Ser250Tyr",
        "hgvsWellDefined": "ENSP00000377880.3:p.Ser250Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1197,
          "referenceAllele": "C",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000448226.6:c.1070C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391803.2:p.Ser357Tyr",
        "hgvsWellDefined": "ENSP00000391803.2:p.Ser357Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1054,
          "referenceAllele": "C",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000451708.5:c.1022C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398639.1:p.Ser341Tyr",
        "hgvsWellDefined": "ENSP00000398639.1:p.Ser341Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1085,
          "referenceAllele": "C",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000472437.5:c.896C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418845.1:p.Ser299Tyr",
        "hgvsWellDefined": "ENSP00000418845.1:p.Ser299Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314406"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 809,
          "referenceAllele": "C",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000478490.5:c.*396C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433487.1:n.*396C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000531774.1:c.563C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435909.1:p.Ser188Tyr",
        "hgvsWellDefined": "ENSP00000435909.1:p.Ser188Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356810"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825105602",
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "C",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_000248.3:c.749C>A",
        "LRG_776t1:c.749C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000239.1:p.Ser250Tyr",
        "hgvsWellDefined": "NP_000239.1:p.Ser250Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006310"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826151426",
      "coordinates": [
        {
          "allele": "A",
          "end": 1085,
          "referenceAllele": "C",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001184967.1:c.896C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171896.1:p.Ser299Tyr",
        "hgvsWellDefined": "NP_001171896.1:p.Ser299Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829651293",
      "coordinates": [
        {
          "allele": "A",
          "end": 1080,
          "referenceAllele": "C",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_006722.2:c.1049C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006713.1:p.Ser350Tyr",
        "hgvsWellDefined": "NP_006713.1:p.Ser350Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830431340",
      "coordinates": [
        {
          "allele": "A",
          "end": 854,
          "referenceAllele": "C",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198158.2:c.731C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937801.1:p.Ser244Tyr",
        "hgvsWellDefined": "NP_937801.1:p.Ser244Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044446"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830431922",
      "coordinates": [
        {
          "allele": "A",
          "end": 1215,
          "referenceAllele": "C",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198159.2:c.1052C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937802.1:p.Ser351Tyr",
        "hgvsWellDefined": "NP_937802.1:p.Ser351Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830432958",
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198177.2:c.1004C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937820.1:p.Ser335Tyr",
        "hgvsWellDefined": "NP_937820.1:p.Ser335Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044451"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830433476",
      "coordinates": [
        {
          "allele": "A",
          "end": 686,
          "referenceAllele": "C",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198178.2:c.563C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937821.2:p.Ser188Tyr",
        "hgvsWellDefined": "NP_937821.2:p.Ser188Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1205,
          "referenceAllele": "C",
          "start": 1204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_005264754.1:c.1070C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264811.1:p.Ser357Tyr",
        "hgvsWellDefined": "XP_005264811.1:p.Ser357Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1084,
          "referenceAllele": "C",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_005264755.2:c.1022C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264812.1:p.Ser341Tyr",
        "hgvsWellDefined": "XP_005264812.1:p.Ser341Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064359"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1225,
          "referenceAllele": "C",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_006713164.2:c.914C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713227.1:p.Ser305Tyr",
        "hgvsWellDefined": "XP_006713227.1:p.Ser305Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070030"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1208,
          "referenceAllele": "C",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533722.1:c.1067C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532024.1:p.Ser356Tyr",
        "hgvsWellDefined": "XP_011532024.1:p.Ser356Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533723.1:c.1019C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532025.1:p.Ser340Tyr",
        "hgvsWellDefined": "XP_011532025.1:p.Ser340Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1098,
          "referenceAllele": "C",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533724.1:c.914C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532026.1:p.Ser305Tyr",
        "hgvsWellDefined": "XP_011532026.1:p.Ser305Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100745"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "referenceAllele": "C",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533725.1:c.902C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532027.1:p.Ser301Tyr",
        "hgvsWellDefined": "XP_011532027.1:p.Ser301Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1047,
          "referenceAllele": "C",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533726.1:c.884C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532028.1:p.Ser295Tyr",
        "hgvsWellDefined": "XP_011532028.1:p.Ser295Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499251867",
      "coordinates": [
        {
          "allele": "A",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354604.1:c.1070C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341533.1:p.Ser357Tyr",
        "hgvsWellDefined": "NP_001341533.1:p.Ser357Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827881656",
      "coordinates": [
        {
          "allele": "A",
          "end": 1230,
          "referenceAllele": "C",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354605.1:c.1067C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341534.1:p.Ser356Tyr",
        "hgvsWellDefined": "NP_001341534.1:p.Ser356Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882025",
      "coordinates": [
        {
          "allele": "A",
          "end": 1212,
          "referenceAllele": "C",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354606.1:c.1049C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341535.1:p.Ser350Tyr",
        "hgvsWellDefined": "NP_001341535.1:p.Ser350Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882392",
      "coordinates": [
        {
          "allele": "A",
          "end": 1344,
          "referenceAllele": "C",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354607.1:c.1001C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341536.1:p.Ser334Tyr",
        "hgvsWellDefined": "NP_001341536.1:p.Ser334Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522551"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882739",
      "coordinates": [
        {
          "allele": "A",
          "end": 1254,
          "referenceAllele": "C",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354608.1:c.896C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341537.1:p.Ser299Tyr",
        "hgvsWellDefined": "NP_001341537.1:p.Ser299Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522552"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826151426",
      "coordinates": [
        {
          "allele": "A",
          "end": 1137,
          "referenceAllele": "C",
          "start": 1136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001184967.2:c.896C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171896.1:p.Ser299Tyr",
        "hgvsWellDefined": "NP_001171896.1:p.Ser299Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499251867",
      "coordinates": [
        {
          "allele": "A",
          "end": 1204,
          "referenceAllele": "C",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354604.2:c.1070C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341533.1:p.Ser357Tyr",
        "hgvsWellDefined": "NP_001341533.1:p.Ser357Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690248",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352241.9:c.1070C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001354604.2:c.1070C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295600.8:p.Ser357Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_001341533.1:p.Ser357Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827881656",
      "coordinates": [
        {
          "allele": "A",
          "end": 1201,
          "referenceAllele": "C",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354605.2:c.1067C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341534.1:p.Ser356Tyr",
        "hgvsWellDefined": "NP_001341534.1:p.Ser356Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690249"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882025",
      "coordinates": [
        {
          "allele": "A",
          "end": 1183,
          "referenceAllele": "C",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354606.2:c.1049C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341535.1:p.Ser350Tyr",
        "hgvsWellDefined": "NP_001341535.1:p.Ser350Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690250"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882392",
      "coordinates": [
        {
          "allele": "A",
          "end": 1315,
          "referenceAllele": "C",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354607.2:c.1001C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341536.1:p.Ser334Tyr",
        "hgvsWellDefined": "NP_001341536.1:p.Ser334Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690251"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882739",
      "coordinates": [
        {
          "allele": "A",
          "end": 1225,
          "referenceAllele": "C",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354608.2:c.896C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341537.1:p.Ser299Tyr",
        "hgvsWellDefined": "NP_001341537.1:p.Ser299Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690252"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830431340",
      "coordinates": [
        {
          "allele": "A",
          "end": 862,
          "referenceAllele": "C",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198158.3:c.731C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937801.1:p.Ser244Tyr",
        "hgvsWellDefined": "NP_937801.1:p.Ser244Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701263"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830431922",
      "coordinates": [
        {
          "allele": "A",
          "end": 1186,
          "referenceAllele": "C",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198159.3:c.1052C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937802.1:p.Ser351Tyr",
        "hgvsWellDefined": "NP_937802.1:p.Ser351Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701264"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830432958",
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198177.3:c.1004C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937820.1:p.Ser335Tyr",
        "hgvsWellDefined": "NP_937820.1:p.Ser335Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701267"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830433476",
      "coordinates": [
        {
          "allele": "A",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198178.3:c.563C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937821.2:p.Ser188Tyr",
        "hgvsWellDefined": "NP_937821.2:p.Ser188Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825105602",
      "coordinates": [
        {
          "allele": "A",
          "end": 880,
          "referenceAllele": "C",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_000248.4:c.749C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000239.1:p.Ser250Tyr",
        "hgvsWellDefined": "NP_000239.1:p.Ser250Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710814",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394351.9:c.749C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000248.4:c.749C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377880.3:p.Ser250Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000239.1:p.Ser250Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829651293",
      "coordinates": [
        {
          "allele": "A",
          "end": 1080,
          "referenceAllele": "C",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_006722.3:c.1049C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006713.1:p.Ser350Tyr",
        "hgvsWellDefined": "NP_006713.1:p.Ser350Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727772"
    }
  ],
  "type": "nucleotide"
}