{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA278558",
  "communityStandardTitle": [
    "NM_052845.4(MMAB):c.349-1G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=215032[alleleid]",
        "alleleId": 215032,
        "preferredName": "NM_052845.4(MMAB):c.349-1G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/218325",
        "RCV": [
          "RCV000202577"
        ],
        "variationId": 218325
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.109999658C>G?assembly=hg19",
        "id": "chr12:g.109999658C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.109561853C>G?assembly=hg38",
        "id": "chr12:g.109561853C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/864309510",
        "rs": 864309510
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-109999658-C-G?dataset=gnomad_r2_1",
        "id": "12-109999658-C-G",
        "variant": "12:109999658 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-109561853-C-G?dataset=gnomad_r4",
        "id": "12-109561853-C-G",
        "variant": "12:109561853 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 109561853,
          "referenceAllele": "C",
          "start": 109561852
        }
      ],
      "hgvs": [
        "NC_000012.12:g.109561853C>G",
        "CM000674.2:g.109561853C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 109999658,
          "referenceAllele": "C",
          "start": 109999657
        }
      ],
      "hgvs": [
        "NC_000012.11:g.109999658C>G",
        "CM000674.1:g.109999658C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 108484041,
          "referenceAllele": "C",
          "start": 108484040
        }
      ],
      "hgvs": [
        "NC_000012.10:g.108484041C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 16645,
          "referenceAllele": "G",
          "start": 16644
        }
      ],
      "hgvs": [
        "NG_007096.1:g.16645G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000477"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 372,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 372,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000545712.7:c.349-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445920.1:n.349-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545712.7:c.349-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_052845.4:c.349-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000445920.1:n.349-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_443077.1:n.349-1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 488,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 488,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000420167.6:c.*178-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416136.2:n.*178-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286203"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 529,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 529,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000503497.7:c.*59-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474881.1:n.*59-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335795"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 371,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 371,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000537496.5:c.349-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444793.1:n.349-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360807"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 209,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 209,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000540016.5:c.193-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474582.1:n.193-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 348,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 348,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000541763.6:c.349-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474981.1:n.349-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363100"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 375,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 375,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000542390.5:n.376-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 320,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 320,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000544051.5:c.*143-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438079.1:n.*143-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364360"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 742,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 742,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000545712.6:c.349-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445920.1:n.349-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 421,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 421,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NM_052845.3:c.349-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_443077.1:n.349-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039844"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 421,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 421,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NR_038118.1:n.422-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 558,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 558,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538266.1:c.107-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536568.1:n.107-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105223"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 447,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 447,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538267.1:c.107-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536569.1:n.107-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105224"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 157,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 157,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538268.1:c.76-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536570.1:n.76-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 542,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 542,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538269.1:c.73-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536571.1:n.73-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 452,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 452,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538267.3:c.107-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536569.1:n.107-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553222"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 753,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 753,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538268.2:c.76-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536570.1:n.76-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553223"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 553,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 553,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_011538269.2:c.73-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536571.1:n.73-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553224"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 448,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 448,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_024448961.1:c.349-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304729.1:n.349-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582526"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 372,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 372,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NM_052845.4:c.349-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_443077.1:n.349-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671607",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545712.7:c.349-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_052845.4:c.349-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000445920.1:n.349-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_443077.1:n.349-1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 372,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 372,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NR_038118.2:n.373-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702298"
    }
  ],
  "type": "nucleotide"
}