{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA312718",
  "communityStandardTitle": [
    "NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200226[alleleid]",
        "alleleId": 200226,
        "preferredName": "NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/203820",
        "RCV": [
          "RCV000190603",
          "RCV000420410",
          "RCV000780427"
        ],
        "variationId": 203820
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-109994886-G-A",
        "id": "12-109994886-G-A",
        "variant": "12:109994886 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.109994886G>A?assembly=hg19",
        "id": "chr12:g.109994886G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.109557081G>A?assembly=hg38",
        "id": "chr12:g.109557081G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/369296618",
        "rs": 369296618
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-109994886-G-A?dataset=gnomad_r2_1",
        "id": "12-109994886-G-A",
        "variant": "12:109994886 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-109557081-G-A?dataset=gnomad_r3",
        "id": "12-109557081-G-A",
        "variant": "12:109557081 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-109557081-G-A?dataset=gnomad_r4",
        "id": "12-109557081-G-A",
        "variant": "12:109557081 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 109557081,
          "referenceAllele": "G",
          "start": 109557080
        }
      ],
      "hgvs": [
        "NC_000012.12:g.109557081G>A",
        "CM000674.2:g.109557081G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 109994886,
          "referenceAllele": "G",
          "start": 109994885
        }
      ],
      "hgvs": [
        "NC_000012.11:g.109994886G>A",
        "CM000674.1:g.109994886G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 108479269,
          "referenceAllele": "G",
          "start": 108479268
        }
      ],
      "hgvs": [
        "NC_000012.10:g.108479269G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21417,
          "referenceAllele": "C",
          "start": 21416
        }
      ],
      "hgvs": [
        "NG_007096.1:g.21417C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000477"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 724,
          "referenceAllele": "C",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000545712.7:c.700C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445920.1:p.Gln234Ter",
        "hgvsWellDefined": "ENSP00000445920.1:p.Gln234_Leu250delinsGluLysIleTyrMetLysAsnAspProSerAlaGluSerGluGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545712.7:c.700C>T"
          },
          "RefSeq": {
            "hgvs": "NM_052845.4:c.700C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000445920.1:p.Gln234Ter"
          },
          "RefSeq": {
            "hgvs": "NP_443077.1:p.Gln234Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000537496.5:c.*265C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444793.1:n.*265C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000540016.5:c.544C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474582.1:p.Gln182Ter",
        "hgvsWellDefined": "ENSP00000474582.1:p.Gln182_Leu198delinsGluLysIleTyrMetLysAsnAspProSerAlaGluSerGluGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 925,
          "referenceAllele": "C",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000541763.6:c.925C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474981.1:n.925C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "C",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000544051.5:c.*581C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438079.1:n.*581C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1094,
          "referenceAllele": "C",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000545712.6:c.700C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445920.1:p.Gln234Ter",
        "hgvsWellDefined": "ENSP00000445920.1:p.Gln234_Leu250delinsGluLysIleTyrMetLysAsnAspProSerAlaGluSerGluGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365243"
    },
    {
      "@id": "http://reg.genome.network/allele/PA312719",
      "coordinates": [
        {
          "allele": "T",
          "end": 773,
          "referenceAllele": "C",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NM_052845.3:c.700C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_443077.1:p.Gln234Ter",
        "hgvsWellDefined": "NP_443077.1:p.Gln234_Leu250delinsGluLysIleTyrMetLysAsnAspProSerAlaGluSerGluGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 860,
          "referenceAllele": "C",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NR_038118.1:n.860C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 997,
          "referenceAllele": "C",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538266.1:c.*47C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536568.1:n.*47C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "referenceAllele": "C",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538267.1:c.*47C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536569.1:n.*47C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105224"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 509,
          "referenceAllele": "C",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538268.1:c.427C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536570.1:p.Gln143Ter",
        "hgvsWellDefined": "XP_011536570.1:p.Gln143_Leu159delinsGluLysIleTyrMetLysAsnAspProSerAlaGluSerGluGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 894,
          "referenceAllele": "C",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538269.1:c.424C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536571.1:p.Gln142Ter",
        "hgvsWellDefined": "XP_011536571.1:p.Gln142_Leu158delinsGluLysIleTyrMetLysAsnAspProSerAlaGluSerGluGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538267.3:c.*47C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536569.1:n.*47C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553222"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1105,
          "referenceAllele": "C",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538268.2:c.427C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536570.1:p.Gln143Ter",
        "hgvsWellDefined": "XP_011536570.1:p.Gln143_Leu159delinsGluLysIleTyrMetLysAsnAspProSerAlaGluSerGluGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 905,
          "referenceAllele": "C",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538269.2:c.424C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536571.1:p.Gln142Ter",
        "hgvsWellDefined": "XP_011536571.1:p.Gln142_Leu158delinsGluLysIleTyrMetLysAsnAspProSerAlaGluSerGluGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA312719",
      "coordinates": [
        {
          "allele": "T",
          "end": 724,
          "referenceAllele": "C",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NM_052845.4:c.700C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_443077.1:p.Gln234Ter",
        "hgvsWellDefined": "NP_443077.1:p.Gln234_Leu250delinsGluLysIleTyrMetLysAsnAspProSerAlaGluSerGluGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671607",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545712.7:c.700C>T"
          },
          "RefSeq": {
            "hgvs": "NM_052845.4:c.700C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000445920.1:p.Gln234Ter"
          },
          "RefSeq": {
            "hgvs": "NP_443077.1:p.Gln234Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 811,
          "referenceAllele": "C",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NR_038118.2:n.811C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702298"
    }
  ],
  "type": "nucleotide"
}