{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2490582",
  "communityStandardTitle": [
    "NM_001354604.2(MITF):c.1154A>G (p.Asn385Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=443510[alleleid]",
        "alleleId": 443510,
        "preferredName": "NM_001354604.2(MITF):c.1154A>G (p.Asn385Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/451477",
        "RCV": [
          "RCV001148363",
          "RCV001148364",
          "RCV000523994",
          "RCV003114651"
        ],
        "variationId": 451477
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-70008546-A-G",
        "id": "3-70008546-A-G",
        "variant": "3:70008546 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.70008546A>G?assembly=hg19",
        "id": "chr3:g.70008546A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.69959395A>G?assembly=hg38",
        "id": "chr3:g.69959395A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368915509",
        "rs": 368915509
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-70008546-A-G?dataset=gnomad_r2_1",
        "id": "3-70008546-A-G",
        "variant": "3:70008546 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-69959395-A-G?dataset=gnomad_r3",
        "id": "3-69959395-A-G",
        "variant": "3:69959395 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-69959395-A-G?dataset=gnomad_r4",
        "id": "3-69959395-A-G",
        "variant": "3:69959395 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 69959395,
          "referenceAllele": "A",
          "start": 69959394
        }
      ],
      "hgvs": [
        "NC_000003.12:g.69959395A>G",
        "CM000665.2:g.69959395A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 70008546,
          "referenceAllele": "A",
          "start": 70008545
        }
      ],
      "hgvs": [
        "NC_000003.11:g.70008546A>G",
        "CM000665.1:g.70008546A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 70091236,
          "referenceAllele": "A",
          "start": 70091235
        }
      ],
      "hgvs": [
        "NC_000003.10:g.70091236A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 224914,
          "referenceAllele": "A",
          "start": 224913
        }
      ],
      "hgvs": [
        "NG_011631.1:g.224914A>G",
        "LRG_776:g.224914A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001866"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1155,
          "referenceAllele": "A",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314589.11:c.1088A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324443.5:p.Asn363Ser",
        "hgvsWellDefined": "ENSP00000324443.5:p.Asn363Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904376"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1407,
          "referenceAllele": "A",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000687384.1:c.1085A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510225.1:p.Asn362Ser",
        "hgvsWellDefined": "ENSP00000510225.1:p.Asn362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831059"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1310,
          "referenceAllele": "A",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000689390.1:n.1310A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1199,
          "referenceAllele": "A",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000693031.1:c.1061A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509845.1:p.Asn354Ser",
        "hgvsWellDefined": "ENSP00000509845.1:p.Asn354Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834028"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1112,
          "referenceAllele": "A",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000693549.1:c.1088A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509358.1:p.Asn363Ser",
        "hgvsWellDefined": "ENSP00000509358.1:p.Asn363Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1155,
          "referenceAllele": "A",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314589.10:c.1088A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324443.5:p.Asn363Ser",
        "hgvsWellDefined": "ENSP00000324443.5:p.Asn363Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745938"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1288,
          "referenceAllele": "A",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000352241.9:c.1154A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295600.8:p.Asn385Ser",
        "hgvsWellDefined": "ENSP00000295600.8:p.Asn385Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352241.9:c.1154A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001354604.2:c.1154A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295600.8:p.Asn385Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001341533.1:p.Asn385Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 964,
          "referenceAllele": "A",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000394351.9:c.833A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377880.3:p.Asn278Ser",
        "hgvsWellDefined": "ENSP00000377880.3:p.Asn278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753248",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394351.9:c.833A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000248.4:c.833A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377880.3:p.Asn278Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000239.1:p.Asn278Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1164,
          "referenceAllele": "A",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000448226.9:c.1133A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391803.3:p.Asn378Ser",
        "hgvsWellDefined": "ENSP00000391803.3:p.Asn378Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1252,
          "referenceAllele": "A",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000642352.1:c.1136A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494105.1:p.Asn379Ser",
        "hgvsWellDefined": "ENSP00000494105.1:p.Asn379Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 951,
          "referenceAllele": "A",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314557.10:c.815A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324246.6:p.Asn272Ser",
        "hgvsWellDefined": "ENSP00000324246.6:p.Asn272Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256974"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1167,
          "referenceAllele": "A",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314589.9:c.1088A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324443.5:p.Asn363Ser",
        "hgvsWellDefined": "ENSP00000324443.5:p.Asn363Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1164,
          "referenceAllele": "A",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000328528.10:c.1133A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327867.6:p.Asn378Ser",
        "hgvsWellDefined": "ENSP00000327867.6:p.Asn378Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1299,
          "referenceAllele": "A",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000352241.8:c.1136A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295600.7:p.Asn379Ser",
        "hgvsWellDefined": "ENSP00000295600.7:p.Asn379Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262847"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 953,
          "referenceAllele": "A",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000394351.7:c.833A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377880.3:p.Asn278Ser",
        "hgvsWellDefined": "ENSP00000377880.3:p.Asn278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1281,
          "referenceAllele": "A",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000448226.6:c.1154A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391803.2:p.Asn385Ser",
        "hgvsWellDefined": "ENSP00000391803.2:p.Asn385Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1169,
          "referenceAllele": "A",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000472437.5:c.980A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418845.1:p.Asn327Ser",
        "hgvsWellDefined": "ENSP00000418845.1:p.Asn327Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 893,
          "referenceAllele": "A",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000478490.5:c.*480A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433487.1:n.*480A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 647,
          "referenceAllele": "A",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000531774.1:c.647A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435909.1:p.Asn216Ser",
        "hgvsWellDefined": "ENSP00000435909.1:p.Asn216Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356810"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658668833",
      "coordinates": [
        {
          "allele": "G",
          "end": 956,
          "referenceAllele": "A",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_000248.3:c.833A>G",
        "LRG_776t1:c.833A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000239.1:p.Asn278Ser",
        "hgvsWellDefined": "NP_000239.1:p.Asn278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006310"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826151451",
      "coordinates": [
        {
          "allele": "G",
          "end": 1169,
          "referenceAllele": "A",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001184967.1:c.980A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171896.1:p.Asn327Ser",
        "hgvsWellDefined": "NP_001171896.1:p.Asn327Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829651329",
      "coordinates": [
        {
          "allele": "G",
          "end": 1164,
          "referenceAllele": "A",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_006722.2:c.1133A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006713.1:p.Asn378Ser",
        "hgvsWellDefined": "NP_006713.1:p.Asn378Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830431383",
      "coordinates": [
        {
          "allele": "G",
          "end": 938,
          "referenceAllele": "A",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198158.2:c.815A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937801.1:p.Asn272Ser",
        "hgvsWellDefined": "NP_937801.1:p.Asn272Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044446"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830431968",
      "coordinates": [
        {
          "allele": "G",
          "end": 1299,
          "referenceAllele": "A",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198159.2:c.1136A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937802.1:p.Asn379Ser",
        "hgvsWellDefined": "NP_937802.1:p.Asn379Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830433026",
      "coordinates": [
        {
          "allele": "G",
          "end": 1155,
          "referenceAllele": "A",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198177.2:c.1088A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937820.1:p.Asn363Ser",
        "hgvsWellDefined": "NP_937820.1:p.Asn363Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044451"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830433532",
      "coordinates": [
        {
          "allele": "G",
          "end": 770,
          "referenceAllele": "A",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198178.2:c.647A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937821.2:p.Asn216Ser",
        "hgvsWellDefined": "NP_937821.2:p.Asn216Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044452"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1289,
          "referenceAllele": "A",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_005264754.1:c.1154A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264811.1:p.Asn385Ser",
        "hgvsWellDefined": "XP_005264811.1:p.Asn385Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064358"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1168,
          "referenceAllele": "A",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_005264755.2:c.1106A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264812.1:p.Asn369Ser",
        "hgvsWellDefined": "XP_005264812.1:p.Asn369Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064359"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1309,
          "referenceAllele": "A",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_006713164.2:c.998A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713227.1:p.Asn333Ser",
        "hgvsWellDefined": "XP_006713227.1:p.Asn333Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070030"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1292,
          "referenceAllele": "A",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533722.1:c.1151A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532024.1:p.Asn384Ser",
        "hgvsWellDefined": "XP_011532024.1:p.Asn384Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1155,
          "referenceAllele": "A",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533723.1:c.1103A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532025.1:p.Asn368Ser",
        "hgvsWellDefined": "XP_011532025.1:p.Asn368Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1182,
          "referenceAllele": "A",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533724.1:c.998A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532026.1:p.Asn333Ser",
        "hgvsWellDefined": "XP_011532026.1:p.Asn333Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1149,
          "referenceAllele": "A",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533725.1:c.986A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532027.1:p.Asn329Ser",
        "hgvsWellDefined": "XP_011532027.1:p.Asn329Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1131,
          "referenceAllele": "A",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533726.1:c.968A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532028.1:p.Asn323Ser",
        "hgvsWellDefined": "XP_011532028.1:p.Asn323Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916038034",
      "coordinates": [
        {
          "allele": "G",
          "end": 1317,
          "referenceAllele": "A",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354604.1:c.1154A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341533.1:p.Asn385Ser",
        "hgvsWellDefined": "NP_001341533.1:p.Asn385Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827881683",
      "coordinates": [
        {
          "allele": "G",
          "end": 1314,
          "referenceAllele": "A",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354605.1:c.1151A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341534.1:p.Asn384Ser",
        "hgvsWellDefined": "NP_001341534.1:p.Asn384Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882052",
      "coordinates": [
        {
          "allele": "G",
          "end": 1296,
          "referenceAllele": "A",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354606.1:c.1133A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341535.1:p.Asn378Ser",
        "hgvsWellDefined": "NP_001341535.1:p.Asn378Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882419",
      "coordinates": [
        {
          "allele": "G",
          "end": 1428,
          "referenceAllele": "A",
          "start": 1427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354607.1:c.1085A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341536.1:p.Asn362Ser",
        "hgvsWellDefined": "NP_001341536.1:p.Asn362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522551"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882766",
      "coordinates": [
        {
          "allele": "G",
          "end": 1338,
          "referenceAllele": "A",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354608.1:c.980A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341537.1:p.Asn327Ser",
        "hgvsWellDefined": "NP_001341537.1:p.Asn327Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522552"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826151451",
      "coordinates": [
        {
          "allele": "G",
          "end": 1221,
          "referenceAllele": "A",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001184967.2:c.980A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171896.1:p.Asn327Ser",
        "hgvsWellDefined": "NP_001171896.1:p.Asn327Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916038034",
      "coordinates": [
        {
          "allele": "G",
          "end": 1288,
          "referenceAllele": "A",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354604.2:c.1154A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341533.1:p.Asn385Ser",
        "hgvsWellDefined": "NP_001341533.1:p.Asn385Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690248",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352241.9:c.1154A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001354604.2:c.1154A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295600.8:p.Asn385Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001341533.1:p.Asn385Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827881683",
      "coordinates": [
        {
          "allele": "G",
          "end": 1285,
          "referenceAllele": "A",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354605.2:c.1151A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341534.1:p.Asn384Ser",
        "hgvsWellDefined": "NP_001341534.1:p.Asn384Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690249"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882052",
      "coordinates": [
        {
          "allele": "G",
          "end": 1267,
          "referenceAllele": "A",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354606.2:c.1133A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341535.1:p.Asn378Ser",
        "hgvsWellDefined": "NP_001341535.1:p.Asn378Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690250"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882419",
      "coordinates": [
        {
          "allele": "G",
          "end": 1399,
          "referenceAllele": "A",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354607.2:c.1085A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341536.1:p.Asn362Ser",
        "hgvsWellDefined": "NP_001341536.1:p.Asn362Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690251"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882766",
      "coordinates": [
        {
          "allele": "G",
          "end": 1309,
          "referenceAllele": "A",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354608.2:c.980A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341537.1:p.Asn327Ser",
        "hgvsWellDefined": "NP_001341537.1:p.Asn327Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690252"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830431383",
      "coordinates": [
        {
          "allele": "G",
          "end": 946,
          "referenceAllele": "A",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198158.3:c.815A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937801.1:p.Asn272Ser",
        "hgvsWellDefined": "NP_937801.1:p.Asn272Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701263"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830431968",
      "coordinates": [
        {
          "allele": "G",
          "end": 1270,
          "referenceAllele": "A",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198159.3:c.1136A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937802.1:p.Asn379Ser",
        "hgvsWellDefined": "NP_937802.1:p.Asn379Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701264"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830433026",
      "coordinates": [
        {
          "allele": "G",
          "end": 1155,
          "referenceAllele": "A",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198177.3:c.1088A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937820.1:p.Asn363Ser",
        "hgvsWellDefined": "NP_937820.1:p.Asn363Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701267"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830433532",
      "coordinates": [
        {
          "allele": "G",
          "end": 778,
          "referenceAllele": "A",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198178.3:c.647A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937821.2:p.Asn216Ser",
        "hgvsWellDefined": "NP_937821.2:p.Asn216Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658668833",
      "coordinates": [
        {
          "allele": "G",
          "end": 964,
          "referenceAllele": "A",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_000248.4:c.833A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000239.1:p.Asn278Ser",
        "hgvsWellDefined": "NP_000239.1:p.Asn278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710814",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394351.9:c.833A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000248.4:c.833A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377880.3:p.Asn278Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000239.1:p.Asn278Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829651329",
      "coordinates": [
        {
          "allele": "G",
          "end": 1164,
          "referenceAllele": "A",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_006722.3:c.1133A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006713.1:p.Asn378Ser",
        "hgvsWellDefined": "NP_006713.1:p.Asn378Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727772"
    }
  ],
  "type": "nucleotide"
}