{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA353561600",
  "communityStandardTitle": [
    "NM_001354604.2(MITF):c.925G>A (p.Glu309Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=535701[alleleid]",
        "alleleId": 535701,
        "preferredName": "NM_001354604.2(MITF):c.925G>A (p.Glu309Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/545452",
        "RCV": [
          "RCV000656418"
        ],
        "variationId": 545452
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.70001007G>A?assembly=hg19",
        "id": "chr3:g.70001007G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.69951856G>A?assembly=hg38",
        "id": "chr3:g.69951856G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553704086",
        "rs": 1553704086
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 69951856,
          "referenceAllele": "G",
          "start": 69951855
        }
      ],
      "hgvs": [
        "NC_000003.12:g.69951856G>A",
        "CM000665.2:g.69951856G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 70001007,
          "referenceAllele": "G",
          "start": 70001006
        }
      ],
      "hgvs": [
        "NC_000003.11:g.70001007G>A",
        "CM000665.1:g.70001007G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 70083697,
          "referenceAllele": "G",
          "start": 70083696
        }
      ],
      "hgvs": [
        "NC_000003.10:g.70083697G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 217375,
          "referenceAllele": "G",
          "start": 217374
        }
      ],
      "hgvs": [
        "NG_011631.1:g.217375G>A",
        "LRG_776:g.217375G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001866"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314589.11:c.859G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324443.5:p.Glu287Lys",
        "hgvsWellDefined": "ENSP00000324443.5:p.Glu287Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1178,
          "referenceAllele": "G",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000687384.1:c.856G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510225.1:p.Glu286Lys",
        "hgvsWellDefined": "ENSP00000510225.1:p.Glu286Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831059"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1081,
          "referenceAllele": "G",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000689390.1:n.1081G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 970,
          "referenceAllele": "G",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000693031.1:c.832G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509845.1:p.Glu278Lys",
        "hgvsWellDefined": "ENSP00000509845.1:p.Glu278Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 883,
          "referenceAllele": "G",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000693549.1:c.859G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509358.1:p.Glu287Lys",
        "hgvsWellDefined": "ENSP00000509358.1:p.Glu287Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314589.10:c.859G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324443.5:p.Glu287Lys",
        "hgvsWellDefined": "ENSP00000324443.5:p.Glu287Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1059,
          "referenceAllele": "G",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000352241.9:c.925G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295600.8:p.Glu309Lys",
        "hgvsWellDefined": "ENSP00000295600.8:p.Glu309Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352241.9:c.925G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001354604.2:c.925G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295600.8:p.Glu309Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001341533.1:p.Glu309Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000394351.9:c.604G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377880.3:p.Glu202Lys",
        "hgvsWellDefined": "ENSP00000377880.3:p.Glu202Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753248",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394351.9:c.604G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000248.4:c.604G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377880.3:p.Glu202Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000239.1:p.Glu202Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "referenceAllele": "G",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000448226.9:c.904G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391803.3:p.Glu302Lys",
        "hgvsWellDefined": "ENSP00000391803.3:p.Glu302Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756165"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1023,
          "referenceAllele": "G",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000642352.1:c.907G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494105.1:p.Glu303Lys",
        "hgvsWellDefined": "ENSP00000494105.1:p.Glu303Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "referenceAllele": "G",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314557.10:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324246.6:p.Glu196Lys",
        "hgvsWellDefined": "ENSP00000324246.6:p.Glu196Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256974"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 938,
          "referenceAllele": "G",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314589.9:c.859G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324443.5:p.Glu287Lys",
        "hgvsWellDefined": "ENSP00000324443.5:p.Glu287Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "referenceAllele": "G",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000328528.10:c.904G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327867.6:p.Glu302Lys",
        "hgvsWellDefined": "ENSP00000327867.6:p.Glu302Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1070,
          "referenceAllele": "G",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000352241.8:c.907G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295600.7:p.Glu303Lys",
        "hgvsWellDefined": "ENSP00000295600.7:p.Glu303Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262847"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000394351.7:c.604G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377880.3:p.Glu202Lys",
        "hgvsWellDefined": "ENSP00000377880.3:p.Glu202Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1052,
          "referenceAllele": "G",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000448226.6:c.925G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391803.2:p.Glu309Lys",
        "hgvsWellDefined": "ENSP00000391803.2:p.Glu309Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 909,
          "referenceAllele": "G",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000451708.5:c.877G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398639.1:p.Glu293Lys",
        "hgvsWellDefined": "ENSP00000398639.1:p.Glu293Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 940,
          "referenceAllele": "G",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000472437.5:c.751G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418845.1:p.Glu251Lys",
        "hgvsWellDefined": "ENSP00000418845.1:p.Glu251Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314406"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 664,
          "referenceAllele": "G",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000478490.5:c.*251G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433487.1:n.*251G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 418,
          "referenceAllele": "G",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000531774.1:c.418G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435909.1:p.Glu140Lys",
        "hgvsWellDefined": "ENSP00000435909.1:p.Glu140Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356810"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658827169",
      "coordinates": [
        {
          "allele": "A",
          "end": 727,
          "referenceAllele": "G",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_000248.3:c.604G>A",
        "LRG_776t1:c.604G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000239.1:p.Glu202Lys",
        "hgvsWellDefined": "NP_000239.1:p.Glu202Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006310"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826151372",
      "coordinates": [
        {
          "allele": "A",
          "end": 940,
          "referenceAllele": "G",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001184967.1:c.751G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171896.1:p.Glu251Lys",
        "hgvsWellDefined": "NP_001171896.1:p.Glu251Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829651211",
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "referenceAllele": "G",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_006722.2:c.904G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006713.1:p.Glu302Lys",
        "hgvsWellDefined": "NP_006713.1:p.Glu302Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830431254",
      "coordinates": [
        {
          "allele": "A",
          "end": 709,
          "referenceAllele": "G",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198158.2:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937801.1:p.Glu196Lys",
        "hgvsWellDefined": "NP_937801.1:p.Glu196Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044446"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830431834",
      "coordinates": [
        {
          "allele": "A",
          "end": 1070,
          "referenceAllele": "G",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198159.2:c.907G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937802.1:p.Glu303Lys",
        "hgvsWellDefined": "NP_937802.1:p.Glu303Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830432822",
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198177.2:c.859G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937820.1:p.Glu287Lys",
        "hgvsWellDefined": "NP_937820.1:p.Glu287Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044451"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830433376",
      "coordinates": [
        {
          "allele": "A",
          "end": 541,
          "referenceAllele": "G",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198178.2:c.418G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937821.2:p.Glu140Lys",
        "hgvsWellDefined": "NP_937821.2:p.Glu140Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "G",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_005264754.1:c.925G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264811.1:p.Glu309Lys",
        "hgvsWellDefined": "XP_005264811.1:p.Glu309Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 939,
          "referenceAllele": "G",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_005264755.2:c.877G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264812.1:p.Glu293Lys",
        "hgvsWellDefined": "XP_005264812.1:p.Glu293Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064359"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1080,
          "referenceAllele": "G",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_006713164.2:c.769G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713227.1:p.Glu257Lys",
        "hgvsWellDefined": "XP_006713227.1:p.Glu257Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070030"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1063,
          "referenceAllele": "G",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533722.1:c.922G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532024.1:p.Glu308Lys",
        "hgvsWellDefined": "XP_011532024.1:p.Glu308Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533723.1:c.874G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532025.1:p.Glu292Lys",
        "hgvsWellDefined": "XP_011532025.1:p.Glu292Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 953,
          "referenceAllele": "G",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533724.1:c.769G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532026.1:p.Glu257Lys",
        "hgvsWellDefined": "XP_011532026.1:p.Glu257Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100745"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 920,
          "referenceAllele": "G",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533725.1:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532027.1:p.Glu253Lys",
        "hgvsWellDefined": "XP_011532027.1:p.Glu253Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 902,
          "referenceAllele": "G",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533726.1:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532028.1:p.Glu247Lys",
        "hgvsWellDefined": "XP_011532028.1:p.Glu247Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916038009",
      "coordinates": [
        {
          "allele": "A",
          "end": 1088,
          "referenceAllele": "G",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354604.1:c.925G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341533.1:p.Glu309Lys",
        "hgvsWellDefined": "NP_001341533.1:p.Glu309Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827881604",
      "coordinates": [
        {
          "allele": "A",
          "end": 1085,
          "referenceAllele": "G",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354605.1:c.922G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341534.1:p.Glu308Lys",
        "hgvsWellDefined": "NP_001341534.1:p.Glu308Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827881973",
      "coordinates": [
        {
          "allele": "A",
          "end": 1067,
          "referenceAllele": "G",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354606.1:c.904G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341535.1:p.Glu302Lys",
        "hgvsWellDefined": "NP_001341535.1:p.Glu302Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882341",
      "coordinates": [
        {
          "allele": "A",
          "end": 1199,
          "referenceAllele": "G",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354607.1:c.856G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341536.1:p.Glu286Lys",
        "hgvsWellDefined": "NP_001341536.1:p.Glu286Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522551"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882688",
      "coordinates": [
        {
          "allele": "A",
          "end": 1109,
          "referenceAllele": "G",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354608.1:c.751G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341537.1:p.Glu251Lys",
        "hgvsWellDefined": "NP_001341537.1:p.Glu251Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522552"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826151372",
      "coordinates": [
        {
          "allele": "A",
          "end": 992,
          "referenceAllele": "G",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001184967.2:c.751G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171896.1:p.Glu251Lys",
        "hgvsWellDefined": "NP_001171896.1:p.Glu251Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916038009",
      "coordinates": [
        {
          "allele": "A",
          "end": 1059,
          "referenceAllele": "G",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354604.2:c.925G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341533.1:p.Glu309Lys",
        "hgvsWellDefined": "NP_001341533.1:p.Glu309Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690248",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352241.9:c.925G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001354604.2:c.925G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295600.8:p.Glu309Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001341533.1:p.Glu309Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827881604",
      "coordinates": [
        {
          "allele": "A",
          "end": 1056,
          "referenceAllele": "G",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354605.2:c.922G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341534.1:p.Glu308Lys",
        "hgvsWellDefined": "NP_001341534.1:p.Glu308Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690249"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827881973",
      "coordinates": [
        {
          "allele": "A",
          "end": 1038,
          "referenceAllele": "G",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354606.2:c.904G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341535.1:p.Glu302Lys",
        "hgvsWellDefined": "NP_001341535.1:p.Glu302Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690250"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882341",
      "coordinates": [
        {
          "allele": "A",
          "end": 1170,
          "referenceAllele": "G",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354607.2:c.856G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341536.1:p.Glu286Lys",
        "hgvsWellDefined": "NP_001341536.1:p.Glu286Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690251"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882688",
      "coordinates": [
        {
          "allele": "A",
          "end": 1080,
          "referenceAllele": "G",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354608.2:c.751G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341537.1:p.Glu251Lys",
        "hgvsWellDefined": "NP_001341537.1:p.Glu251Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690252"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830431254",
      "coordinates": [
        {
          "allele": "A",
          "end": 717,
          "referenceAllele": "G",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198158.3:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937801.1:p.Glu196Lys",
        "hgvsWellDefined": "NP_937801.1:p.Glu196Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701263"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830431834",
      "coordinates": [
        {
          "allele": "A",
          "end": 1041,
          "referenceAllele": "G",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198159.3:c.907G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937802.1:p.Glu303Lys",
        "hgvsWellDefined": "NP_937802.1:p.Glu303Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701264"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830432822",
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198177.3:c.859G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937820.1:p.Glu287Lys",
        "hgvsWellDefined": "NP_937820.1:p.Glu287Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701267"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830433376",
      "coordinates": [
        {
          "allele": "A",
          "end": 549,
          "referenceAllele": "G",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198178.3:c.418G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937821.2:p.Glu140Lys",
        "hgvsWellDefined": "NP_937821.2:p.Glu140Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658827169",
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_000248.4:c.604G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000239.1:p.Glu202Lys",
        "hgvsWellDefined": "NP_000239.1:p.Glu202Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710814",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394351.9:c.604G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000248.4:c.604G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377880.3:p.Glu202Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000239.1:p.Glu202Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829651211",
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "referenceAllele": "G",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_006722.3:c.904G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006713.1:p.Glu302Lys",
        "hgvsWellDefined": "NP_006713.1:p.Glu302Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727772"
    }
  ],
  "type": "nucleotide"
}