{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2062448155",
  "communityStandardTitle": [
    "NM_052845.4(MMAB):c.569G= (p.Arg190=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/756414548",
        "rs": 756414548
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 109561055,
          "referenceAllele": "C",
          "start": 109561054
        }
      ],
      "hgvs": [
        "NC_000012.12:g.109561055C=",
        "CM000674.2:g.109561055C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 109998860,
          "referenceAllele": "C",
          "start": 109998859
        }
      ],
      "hgvs": [
        "NC_000012.11:g.109998860C=",
        "CM000674.1:g.109998860C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 108483243,
          "referenceAllele": "C",
          "start": 108483242
        }
      ],
      "hgvs": [
        "NC_000012.10:g.108483243C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 17443,
          "referenceAllele": "G",
          "start": 17442
        }
      ],
      "hgvs": [
        "NG_007096.1:g.17443G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000477"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 593,
          "referenceAllele": "G",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000545712.7:c.569G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445920.1:p.Arg190="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545712.7:c.569G="
          },
          "RefSeq": {
            "hgvs": "NM_052845.4:c.569G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000445920.1:p.Arg190="
          },
          "RefSeq": {
            "hgvs": "NP_443077.1:p.Arg190="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 679,
          "referenceAllele": "G",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000537496.5:c.*134G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444793.1:n.*134G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360807"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 430,
          "referenceAllele": "G",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000540016.5:c.413G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474582.1:p.Arg138="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "G",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000541763.6:c.794G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474981.1:n.794G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363100"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 628,
          "referenceAllele": "G",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000544051.5:c.*450G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438079.1:n.*450G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364360"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 963,
          "referenceAllele": "G",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000545712.6:c.569G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445920.1:p.Arg190="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365243"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830139006",
      "coordinates": [
        {
          "allele": "G",
          "end": 642,
          "referenceAllele": "G",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NM_052845.3:c.569G="
      ],
      "proteinEffect": {
        "hgvs": "NP_443077.1:p.Arg190="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039844"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NR_038118.1:n.729G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 866,
          "referenceAllele": "G",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538266.1:c.414G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536568.1:p.Pro138="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 755,
          "referenceAllele": "G",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538267.1:c.414G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536569.1:p.Pro138="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 378,
          "referenceAllele": "G",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538268.1:c.296G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536570.1:p.Arg99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105225"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 763,
          "referenceAllele": "G",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538269.1:c.293G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536571.1:p.Arg98="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105226"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 760,
          "referenceAllele": "G",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538267.3:c.414G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536569.1:p.Pro138="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553222"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538268.2:c.296G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536570.1:p.Arg99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 774,
          "referenceAllele": "G",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538269.2:c.293G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536571.1:p.Arg98="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 669,
          "referenceAllele": "G",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_024448961.1:c.569G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304729.1:p.Arg190="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582526"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830139006",
      "coordinates": [
        {
          "allele": "G",
          "end": 593,
          "referenceAllele": "G",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NM_052845.4:c.569G="
      ],
      "proteinEffect": {
        "hgvs": "NP_443077.1:p.Arg190="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671607",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545712.7:c.569G="
          },
          "RefSeq": {
            "hgvs": "NM_052845.4:c.569G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000445920.1:p.Arg190="
          },
          "RefSeq": {
            "hgvs": "NP_443077.1:p.Arg190="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 680,
          "referenceAllele": "G",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NR_038118.2:n.680G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702298"
    }
  ],
  "type": "nucleotide"
}