{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA347905",
  "communityStandardTitle": [
    "NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=216036[alleleid]",
        "alleleId": 216036,
        "preferredName": "NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/218979",
        "RCV": [
          "RCV000203388"
        ],
        "variationId": 218979
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.146576405G>A?assembly=hg19",
        "id": "chr4:g.146576405G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.145655253G>A?assembly=hg38",
        "id": "chr4:g.145655253G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/864309731",
        "rs": 864309731
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-145655253-G-A?dataset=gnomad_r3",
        "id": "4-145655253-G-A",
        "variant": "4:145655253 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-145655253-G-A?dataset=gnomad_r4",
        "id": "4-145655253-G-A",
        "variant": "4:145655253 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 145655253,
          "referenceAllele": "G",
          "start": 145655252
        }
      ],
      "hgvs": [
        "NC_000004.12:g.145655253G>A",
        "CM000666.2:g.145655253G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 146576405,
          "referenceAllele": "G",
          "start": 146576404
        }
      ],
      "hgvs": [
        "NC_000004.11:g.146576405G>A",
        "CM000666.1:g.146576405G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 146795855,
          "referenceAllele": "G",
          "start": 146795854
        }
      ],
      "hgvs": [
        "NC_000004.10:g.146795855G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40956,
          "referenceAllele": "G",
          "start": 40955
        }
      ],
      "hgvs": [
        "NG_007536.1:g.40956G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000640"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 61212,
          "referenceAllele": "G",
          "start": 61211
        }
      ],
      "hgvs": [
        "NG_007536.2:g.61212G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706075"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1358,
          "referenceAllele": "G",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000541599.5:c.1076G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442284.3:p.Arg359Gln",
        "hgvsWellDefined": "ENSP00000442284.3:p.Arg359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1424,
          "referenceAllele": "G",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000647947.1:c.*860G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496781.1:n.*860G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1287,
          "referenceAllele": "G",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000648388.1:c.1076G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497046.1:p.Arg359Gln",
        "hgvsWellDefined": "ENSP00000497046.1:p.Arg359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1164,
          "referenceAllele": "G",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000649156.2:c.1076G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497008.1:p.Arg359Gln",
        "hgvsWellDefined": "ENSP00000497008.1:p.Arg359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649156.2:c.1076G>A"
          },
          "RefSeq": {
            "hgvs": "NM_172250.3:c.1076G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497008.1:p.Arg359Gln"
          },
          "RefSeq": {
            "hgvs": "NP_758454.1:p.Arg359Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1297,
          "referenceAllele": "G",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000649173.1:c.1010G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497871.1:p.Arg337Gln",
        "hgvsWellDefined": "ENSP00000497871.1:p.Arg337Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770388"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1435,
          "referenceAllele": "G",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000649704.1:c.1076G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497680.1:p.Arg359Gln",
        "hgvsWellDefined": "ENSP00000497680.1:p.Arg359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1378,
          "referenceAllele": "G",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000679563.1:c.1076G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506503.1:p.Arg359Gln",
        "hgvsWellDefined": "ENSP00000506503.1:p.Arg359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1113,
          "referenceAllele": "G",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000679930.1:c.*595G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506293.1:n.*595G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2286,
          "referenceAllele": "G",
          "start": 2285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000281317.9:c.1076G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000281317.5:p.Arg359Gln",
        "hgvsWellDefined": "ENSP00000281317.5:p.Arg359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252991"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 486,
          "referenceAllele": "G",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000503730.1:n.486G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1037,
          "referenceAllele": "G",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000511969.4:c.*207G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427422.1:n.*207G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1123,
          "referenceAllele": "G",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000541599.4:c.1076G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442284.2:p.Arg359Gln",
        "hgvsWellDefined": "ENSP00000442284.2:p.Arg359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104641",
      "coordinates": [
        {
          "allele": "A",
          "end": 1161,
          "referenceAllele": "G",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "NM_172250.2:c.1076G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_758454.1:p.Arg359Gln",
        "hgvsWellDefined": "NP_758454.1:p.Arg359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1217,
          "referenceAllele": "G",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531684.1:c.1076G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529986.1:p.Arg359Gln",
        "hgvsWellDefined": "XP_011529986.1:p.Arg359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098716"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1226,
          "referenceAllele": "G",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531685.1:c.1076G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529987.1:p.Arg359Gln",
        "hgvsWellDefined": "XP_011529987.1:p.Arg359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098717"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 894,
          "referenceAllele": "G",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531686.1:c.581G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529988.1:p.Arg194Gln",
        "hgvsWellDefined": "XP_011529988.1:p.Arg194Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098718"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104641",
      "coordinates": [
        {
          "allele": "A",
          "end": 1164,
          "referenceAllele": "G",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "NM_172250.3:c.1076G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_758454.1:p.Arg359Gln",
        "hgvsWellDefined": "NP_758454.1:p.Arg359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649156.2:c.1076G>A"
          },
          "RefSeq": {
            "hgvs": "NM_172250.3:c.1076G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497008.1:p.Arg359Gln"
          },
          "RefSeq": {
            "hgvs": "NP_758454.1:p.Arg359Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1240,
          "referenceAllele": "G",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531684.3:c.1076G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529986.1:p.Arg359Gln",
        "hgvsWellDefined": "XP_011529986.1:p.Arg359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550496"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1282,
          "referenceAllele": "G",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531685.2:c.1076G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529987.1:p.Arg359Gln",
        "hgvsWellDefined": "XP_011529987.1:p.Arg359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550497"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1429,
          "referenceAllele": "G",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531686.2:c.581G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529988.1:p.Arg194Gln",
        "hgvsWellDefined": "XP_011529988.1:p.Arg194Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550498"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1406,
          "referenceAllele": "G",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "NM_001375644.1:c.1076G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362573.1:p.Arg359Gln",
        "hgvsWellDefined": "NP_001362573.1:p.Arg359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693733"
    }
  ],
  "type": "nucleotide"
}