{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA481711090",
  "communityStandardTitle": [
    "NM_052845.4(MMAB):c.571C>A (p.Arg191=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.109998858G>T?assembly=hg19",
        "id": "chr12:g.109998858G>T"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.109998858_109998884delinsTGCGGCACACGGCCCGGCAGAAATGCA?assembly=hg19",
        "id": "chr12:g.109998858_109998884delinsTGCGGCACACGGCCCGGCAGAAATGCA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/376128990",
        "rs": 376128990
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-109998858-G-T?dataset=gnomad_r2_1",
        "id": "12-109998858-G-T",
        "variant": "12:109998858 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-109561053-G-T?dataset=gnomad_r4",
        "id": "12-109561053-G-T",
        "variant": "12:109561053 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 109561053,
          "referenceAllele": "G",
          "start": 109561052
        }
      ],
      "hgvs": [
        "NC_000012.12:g.109561053G>T",
        "CM000674.2:g.109561053G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 109998858,
          "referenceAllele": "G",
          "start": 109998857
        }
      ],
      "hgvs": [
        "NC_000012.11:g.109998858G>T",
        "CM000674.1:g.109998858G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 108483241,
          "referenceAllele": "G",
          "start": 108483240
        }
      ],
      "hgvs": [
        "NC_000012.10:g.108483241G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17445,
          "referenceAllele": "C",
          "start": 17444
        }
      ],
      "hgvs": [
        "NG_007096.1:g.17445C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000477"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 595,
          "referenceAllele": "C",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000545712.7:c.571C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445920.1:p.Arg191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545712.7:c.571C>A"
          },
          "RefSeq": {
            "hgvs": "NM_052845.4:c.571C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000445920.1:p.Arg191="
          },
          "RefSeq": {
            "hgvs": "NP_443077.1:p.Arg191="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000537496.5:c.*136C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444793.1:n.*136C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360807"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000540016.5:c.415C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474582.1:p.Arg139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 796,
          "referenceAllele": "C",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000541763.6:c.796C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474981.1:n.796C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 630,
          "referenceAllele": "C",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000544051.5:c.*452C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438079.1:n.*452C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 965,
          "referenceAllele": "C",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000545712.6:c.571C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445920.1:p.Arg191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365243"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830139017",
      "coordinates": [
        {
          "allele": "A",
          "end": 644,
          "referenceAllele": "C",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NM_052845.3:c.571C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_443077.1:p.Arg191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039844"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 731,
          "referenceAllele": "C",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NR_038118.1:n.731C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 868,
          "referenceAllele": "C",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538266.1:c.416C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536568.1:p.Pro139Gln",
        "hgvsWellDefined": "XP_011536568.1:p.Pro139Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 757,
          "referenceAllele": "C",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538267.1:c.416C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536569.1:p.Pro139Gln",
        "hgvsWellDefined": "XP_011536569.1:p.Pro139Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105224"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 380,
          "referenceAllele": "C",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538268.1:c.298C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536570.1:p.Arg100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 765,
          "referenceAllele": "C",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538269.1:c.295C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536571.1:p.Arg99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105226"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 762,
          "referenceAllele": "C",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538267.3:c.416C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536569.1:p.Pro139Gln",
        "hgvsWellDefined": "XP_011536569.1:p.Pro139Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553222"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538268.2:c.298C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536570.1:p.Arg100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 776,
          "referenceAllele": "C",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538269.2:c.295C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536571.1:p.Arg99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553224"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 671,
          "referenceAllele": "C",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_024448961.1:c.571C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304729.1:p.Arg191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582526"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830139017",
      "coordinates": [
        {
          "allele": "A",
          "end": 595,
          "referenceAllele": "C",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NM_052845.4:c.571C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_443077.1:p.Arg191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671607",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545712.7:c.571C>A"
          },
          "RefSeq": {
            "hgvs": "NM_052845.4:c.571C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000445920.1:p.Arg191="
          },
          "RefSeq": {
            "hgvs": "NP_443077.1:p.Arg191="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 682,
          "referenceAllele": "C",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NR_038118.2:n.682C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702298"
    }
  ],
  "type": "nucleotide"
}