{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358344811",
  "communityStandardTitle": [
    "NM_172250.3(MMAA):c.988C>G (p.Arg330Gly)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.146576317C>G?assembly=hg19",
        "id": "chr4:g.146576317C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.145655165C>G?assembly=hg38",
        "id": "chr4:g.145655165C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/571038432",
        "rs": 571038432
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 145655165,
          "referenceAllele": "C",
          "start": 145655164
        }
      ],
      "hgvs": [
        "NC_000004.12:g.145655165C>G",
        "CM000666.2:g.145655165C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 146576317,
          "referenceAllele": "C",
          "start": 146576316
        }
      ],
      "hgvs": [
        "NC_000004.11:g.146576317C>G",
        "CM000666.1:g.146576317C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 146795767,
          "referenceAllele": "C",
          "start": 146795766
        }
      ],
      "hgvs": [
        "NC_000004.10:g.146795767C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40868,
          "referenceAllele": "C",
          "start": 40867
        }
      ],
      "hgvs": [
        "NG_007536.1:g.40868C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000640"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 61124,
          "referenceAllele": "C",
          "start": 61123
        }
      ],
      "hgvs": [
        "NG_007536.2:g.61124C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706075"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1270,
          "referenceAllele": "C",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000541599.5:c.988C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442284.3:p.Arg330Gly",
        "hgvsWellDefined": "ENSP00000442284.3:p.Arg330Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1336,
          "referenceAllele": "C",
          "start": 1335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000647947.1:c.*772C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496781.1:n.*772C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769706"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1199,
          "referenceAllele": "C",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000648388.1:c.988C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497046.1:p.Arg330Gly",
        "hgvsWellDefined": "ENSP00000497046.1:p.Arg330Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000649156.2:c.988C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497008.1:p.Arg330Gly",
        "hgvsWellDefined": "ENSP00000497008.1:p.Arg330Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649156.2:c.988C>G"
          },
          "RefSeq": {
            "hgvs": "NM_172250.3:c.988C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497008.1:p.Arg330Gly"
          },
          "RefSeq": {
            "hgvs": "NP_758454.1:p.Arg330Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1209,
          "referenceAllele": "C",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000649173.1:c.922C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497871.1:p.Arg308Gly",
        "hgvsWellDefined": "ENSP00000497871.1:p.Arg308Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1347,
          "referenceAllele": "C",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000649704.1:c.988C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497680.1:p.Arg330Gly",
        "hgvsWellDefined": "ENSP00000497680.1:p.Arg330Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1290,
          "referenceAllele": "C",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000679563.1:c.988C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506503.1:p.Arg330Gly",
        "hgvsWellDefined": "ENSP00000506503.1:p.Arg330Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779191"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1025,
          "referenceAllele": "C",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000679930.1:c.*507C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506293.1:n.*507C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779552"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2198,
          "referenceAllele": "C",
          "start": 2197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000281317.9:c.988C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000281317.5:p.Arg330Gly",
        "hgvsWellDefined": "ENSP00000281317.5:p.Arg330Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252991"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 398,
          "referenceAllele": "C",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000503730.1:n.398C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 949,
          "referenceAllele": "C",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000511969.4:c.*119C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427422.1:n.*119C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342110"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1035,
          "referenceAllele": "C",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000541599.4:c.988C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442284.2:p.Arg330Gly",
        "hgvsWellDefined": "ENSP00000442284.2:p.Arg330Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069995486",
      "coordinates": [
        {
          "allele": "G",
          "end": 1073,
          "referenceAllele": "C",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "NM_172250.2:c.988C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_758454.1:p.Arg330Gly",
        "hgvsWellDefined": "NP_758454.1:p.Arg330Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042714"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1129,
          "referenceAllele": "C",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531684.1:c.988C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529986.1:p.Arg330Gly",
        "hgvsWellDefined": "XP_011529986.1:p.Arg330Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098716"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1138,
          "referenceAllele": "C",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531685.1:c.988C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529987.1:p.Arg330Gly",
        "hgvsWellDefined": "XP_011529987.1:p.Arg330Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098717"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "referenceAllele": "C",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531686.1:c.493C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529988.1:p.Arg165Gly",
        "hgvsWellDefined": "XP_011529988.1:p.Arg165Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098718"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069995486",
      "coordinates": [
        {
          "allele": "G",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "NM_172250.3:c.988C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_758454.1:p.Arg330Gly",
        "hgvsWellDefined": "NP_758454.1:p.Arg330Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649156.2:c.988C>G"
          },
          "RefSeq": {
            "hgvs": "NM_172250.3:c.988C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497008.1:p.Arg330Gly"
          },
          "RefSeq": {
            "hgvs": "NP_758454.1:p.Arg330Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531684.3:c.988C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529986.1:p.Arg330Gly",
        "hgvsWellDefined": "XP_011529986.1:p.Arg330Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1194,
          "referenceAllele": "C",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531685.2:c.988C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529987.1:p.Arg330Gly",
        "hgvsWellDefined": "XP_011529987.1:p.Arg330Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550497"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1341,
          "referenceAllele": "C",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531686.2:c.493C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529988.1:p.Arg165Gly",
        "hgvsWellDefined": "XP_011529988.1:p.Arg165Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550498"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1318,
          "referenceAllele": "C",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "NM_001375644.1:c.988C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362573.1:p.Arg330Gly",
        "hgvsWellDefined": "NP_001362573.1:p.Arg330Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693733"
    }
  ],
  "type": "nucleotide"
}