{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2062449119",
  "communityStandardTitle": [
    "NM_052845.4(MMAB):c.403G= (p.Ala135=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/35648932",
        "rs": 35648932
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 109561798,
          "referenceAllele": "C",
          "start": 109561797
        }
      ],
      "hgvs": [
        "NC_000012.12:g.109561798C=",
        "CM000674.2:g.109561798C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 109999603,
          "referenceAllele": "C",
          "start": 109999602
        }
      ],
      "hgvs": [
        "NC_000012.11:g.109999603C=",
        "CM000674.1:g.109999603C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 108483986,
          "referenceAllele": "C",
          "start": 108483985
        }
      ],
      "hgvs": [
        "NC_000012.10:g.108483986C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16700,
          "referenceAllele": "G",
          "start": 16699
        }
      ],
      "hgvs": [
        "NG_007096.1:g.16700G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000477"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 427,
          "referenceAllele": "G",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000545712.7:c.403G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445920.1:p.Ala135="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545712.7:c.403G="
          },
          "RefSeq": {
            "hgvs": "NM_052845.4:c.403G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000445920.1:p.Ala135="
          },
          "RefSeq": {
            "hgvs": "NP_443077.1:p.Ala135="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "referenceAllele": "G",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000420167.6:c.*232G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416136.2:n.*232G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286203"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 426,
          "referenceAllele": "G",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000537496.5:c.403G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444793.1:p.Ala135="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360807"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 264,
          "referenceAllele": "G",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000540016.5:c.247G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474582.1:p.Ala83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 403,
          "referenceAllele": "G",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000541763.6:c.403G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474981.1:p.Ala135="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363100"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 430,
          "referenceAllele": "G",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000542390.5:n.430G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363437"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 375,
          "referenceAllele": "G",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000544051.5:c.*197G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438079.1:n.*197G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364360"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 797,
          "referenceAllele": "G",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000545712.6:c.403G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445920.1:p.Ala135="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365243"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830138863",
      "coordinates": [
        {
          "allele": "G",
          "end": 476,
          "referenceAllele": "G",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NM_052845.3:c.403G="
      ],
      "proteinEffect": {
        "hgvs": "NP_443077.1:p.Ala135="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039844"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 476,
          "referenceAllele": "G",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NR_038118.1:n.476G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 613,
          "referenceAllele": "G",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538266.1:c.161G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536568.1:p.Gly54="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538267.1:c.161G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536569.1:p.Gly54="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 212,
          "referenceAllele": "G",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538268.1:c.130G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536570.1:p.Ala44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105225"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 597,
          "referenceAllele": "G",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538269.1:c.127G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536571.1:p.Ala43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105226"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 507,
          "referenceAllele": "G",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538267.3:c.161G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536569.1:p.Gly54="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553222"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 808,
          "referenceAllele": "G",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538268.2:c.130G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536570.1:p.Ala44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 608,
          "referenceAllele": "G",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538269.2:c.127G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536571.1:p.Ala43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 503,
          "referenceAllele": "G",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_024448961.1:c.403G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304729.1:p.Ala135="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582526"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830138863",
      "coordinates": [
        {
          "allele": "G",
          "end": 427,
          "referenceAllele": "G",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NM_052845.4:c.403G="
      ],
      "proteinEffect": {
        "hgvs": "NP_443077.1:p.Ala135="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671607",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545712.7:c.403G="
          },
          "RefSeq": {
            "hgvs": "NM_052845.4:c.403G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000445920.1:p.Ala135="
          },
          "RefSeq": {
            "hgvs": "NP_443077.1:p.Ala135="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 427,
          "referenceAllele": "G",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NR_038118.2:n.427G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702298"
    }
  ],
  "type": "nucleotide"
}