{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2349777546",
  "communityStandardTitle": [
    "NM_170784.3(MKKS):c.1334T= (p.Leu445=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516054",
        "rs": 1057516054
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 10405626,
          "referenceAllele": "A",
          "start": 10405625
        }
      ],
      "hgvs": [
        "NC_000020.11:g.10405626A=",
        "CM000682.2:g.10405626A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 10386274,
          "referenceAllele": "A",
          "start": 10386273
        }
      ],
      "hgvs": [
        "NC_000020.10:g.10386274A=",
        "CM000682.1:g.10386274A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 10334274,
          "referenceAllele": "A",
          "start": 10334273
        }
      ],
      "hgvs": [
        "NC_000020.9:g.10334274A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 33593,
          "referenceAllele": "T",
          "start": 33592
        }
      ],
      "hgvs": [
        "NG_009109.1:g.33593T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 33593,
          "referenceAllele": "T",
          "start": 33592
        }
      ],
      "hgvs": [
        "NG_009109.2:g.33593T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673519"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2176,
          "referenceAllele": "T",
          "start": 2175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007108",
      "geneNCBI_id": 8195,
      "geneSymbol": "MKKS",
      "hgvs": [
        "ENST00000651692.1:c.1334T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498849.1:p.Leu445="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 978,
          "referenceAllele": "T",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007108",
      "geneNCBI_id": 8195,
      "geneSymbol": "MKKS",
      "hgvs": [
        "ENST00000652676.1:n.978T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007108",
      "geneNCBI_id": 8195,
      "geneSymbol": "MKKS",
      "hgvs": [
        "ENST00000347364.7:c.1334T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000246062.4:p.Leu445="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262352",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347364.7:c.1334T="
          },
          "RefSeq": {
            "hgvs": "NM_170784.3:c.1334T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000246062.4:p.Leu445="
          },
          "RefSeq": {
            "hgvs": "NP_740754.1:p.Leu445="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2221,
          "referenceAllele": "T",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007108",
      "geneNCBI_id": 8195,
      "geneSymbol": "MKKS",
      "hgvs": [
        "ENST00000399054.6:c.1334T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382008.2:p.Leu445="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2224,
          "referenceAllele": "T",
          "start": 2223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007108",
      "geneNCBI_id": 8195,
      "geneSymbol": "MKKS",
      "hgvs": [
        "NM_018848.3:c.1334T="
      ],
      "proteinEffect": {
        "hgvs": "NP_061336.1:p.Leu445="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035903"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087811127",
      "coordinates": [
        {
          "allele": "T",
          "end": 2114,
          "referenceAllele": "T",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007108",
      "geneNCBI_id": 8195,
      "geneSymbol": "MKKS",
      "hgvs": [
        "NM_170784.2:c.1334T="
      ],
      "proteinEffect": {
        "hgvs": "NP_740754.1:p.Leu445="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 712,
          "referenceAllele": "T",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007108",
      "geneNCBI_id": 8195,
      "geneSymbol": "MKKS",
      "hgvs": [
        "NR_072977.1:n.712T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 695,
          "referenceAllele": "T",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007108",
      "geneNCBI_id": 8195,
      "geneSymbol": "MKKS",
      "hgvs": [
        "NR_072977.2:n.695T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087811127",
      "coordinates": [
        {
          "allele": "T",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007108",
      "geneNCBI_id": 8195,
      "geneSymbol": "MKKS",
      "hgvs": [
        "NM_170784.3:c.1334T="
      ],
      "proteinEffect": {
        "hgvs": "NP_740754.1:p.Leu445="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729515",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347364.7:c.1334T="
          },
          "RefSeq": {
            "hgvs": "NM_170784.3:c.1334T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000246062.4:p.Leu445="
          },
          "RefSeq": {
            "hgvs": "NP_740754.1:p.Leu445="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}