{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10390882",
  "communityStandardTitle": [
    "NM_000240.4(MAOA):c.1053-46A>G"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-43595428-A-G",
        "id": "X-43595428-A-G",
        "variant": "X:43595428 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.43595428A>G?assembly=hg19",
        "id": "chrX:g.43595428A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.43736181A>G?assembly=hg38",
        "id": "chrX:g.43736181A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2235186",
        "rs": 2235186
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-43595428-A-G?dataset=gnomad_r2_1",
        "id": "X-43595428-A-G",
        "variant": "X:43595428 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-43736181-A-G?dataset=gnomad_r3",
        "id": "X-43736181-A-G",
        "variant": "X:43736181 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-43736181-A-G?dataset=gnomad_r4",
        "id": "X-43736181-A-G",
        "variant": "X:43736181 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 43736181,
          "referenceAllele": "A",
          "start": 43736180
        }
      ],
      "hgvs": [
        "NC_000023.11:g.43736181A>G",
        "CM000685.2:g.43736181A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 43595428,
          "referenceAllele": "A",
          "start": 43595427
        }
      ],
      "hgvs": [
        "NC_000023.10:g.43595428A>G",
        "CM000685.1:g.43595428A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 43480372,
          "referenceAllele": "A",
          "start": 43480371
        }
      ],
      "hgvs": [
        "NC_000023.9:g.43480372A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 85021,
          "referenceAllele": "A",
          "start": 85020
        }
      ],
      "hgvs": [
        "NG_008957.2:g.85021A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001328"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2595,
          "endIntronDirection": "-",
          "endIntronOffset": 45,
          "referenceAllele": "A",
          "start": 2595,
          "startIntronDirection": "-",
          "startIntronOffset": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006833",
      "geneNCBI_id": 4128,
      "geneSymbol": "MAOA",
      "hgvs": [
        "ENST00000542639.6:c.654-46A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440846.1:n.654-46A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825922"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1085,
          "endIntronDirection": "-",
          "endIntronOffset": 45,
          "referenceAllele": "A",
          "start": 1085,
          "startIntronDirection": "-",
          "startIntronOffset": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006833",
      "geneNCBI_id": 4128,
      "geneSymbol": "MAOA",
      "hgvs": [
        "ENST00000686683.1:c.363-46A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509063.1:n.363-46A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830696"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1184,
          "endIntronDirection": "-",
          "endIntronOffset": 45,
          "referenceAllele": "A",
          "start": 1184,
          "startIntronDirection": "-",
          "startIntronOffset": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006833",
      "geneNCBI_id": 4128,
      "geneSymbol": "MAOA",
      "hgvs": [
        "ENST00000686980.1:n.1185-46A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1232,
          "endIntronDirection": "-",
          "endIntronOffset": 45,
          "referenceAllele": "A",
          "start": 1232,
          "startIntronDirection": "-",
          "startIntronOffset": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006833",
      "geneNCBI_id": 4128,
      "geneSymbol": "MAOA",
      "hgvs": [
        "ENST00000688006.1:c.654-46A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510311.1:n.654-46A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831380"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 608,
          "endIntronDirection": "-",
          "endIntronOffset": 45,
          "referenceAllele": "A",
          "start": 608,
          "startIntronDirection": "-",
          "startIntronOffset": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006833",
      "geneNCBI_id": 4128,
      "geneSymbol": "MAOA",
      "hgvs": [
        "ENST00000688859.1:n.609-46A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1129,
          "endIntronDirection": "-",
          "endIntronOffset": 45,
          "referenceAllele": "A",
          "start": 1129,
          "startIntronDirection": "-",
          "startIntronOffset": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006833",
      "geneNCBI_id": 4128,
      "geneSymbol": "MAOA",
      "hgvs": [
        "ENST00000689087.1:c.654-46A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508997.1:n.654-46A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831981"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 986,
          "endIntronDirection": "-",
          "endIntronOffset": 45,
          "referenceAllele": "A",
          "start": 986,
          "startIntronDirection": "-",
          "startIntronOffset": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006833",
      "geneNCBI_id": 4128,
      "geneSymbol": "MAOA",
      "hgvs": [
        "ENST00000693128.1:c.948-46A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508493.1:n.948-46A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1095,
          "endIntronDirection": "-",
          "endIntronOffset": 45,
          "referenceAllele": "A",
          "start": 1095,
          "startIntronDirection": "-",
          "startIntronOffset": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006833",
      "geneNCBI_id": 4128,
      "geneSymbol": "MAOA",
      "hgvs": [
        "ENST00000338702.4:c.1053-46A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340684.3:n.1053-46A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747762",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338702.4:c.1053-46A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000240.4:c.1053-46A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340684.3:n.1053-46A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000231.1:n.1053-46A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1175,
          "endIntronDirection": "-",
          "endIntronOffset": 45,
          "referenceAllele": "A",
          "start": 1175,
          "startIntronDirection": "-",
          "startIntronOffset": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006833",
      "geneNCBI_id": 4128,
      "geneSymbol": "MAOA",
      "hgvs": [
        "ENST00000338702.3:c.1053-46A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340684.3:n.1053-46A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260713"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2595,
          "endIntronDirection": "-",
          "endIntronOffset": 45,
          "referenceAllele": "A",
          "start": 2595,
          "startIntronDirection": "-",
          "startIntronOffset": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006833",
      "geneNCBI_id": 4128,
      "geneSymbol": "MAOA",
      "hgvs": [
        "ENST00000542639.5:c.654-46A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440846.1:n.654-46A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363569"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2487,
          "endIntronDirection": "-",
          "endIntronOffset": 45,
          "referenceAllele": "A",
          "start": 2487,
          "startIntronDirection": "-",
          "startIntronOffset": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006833",
      "geneNCBI_id": 4128,
      "geneSymbol": "MAOA",
      "hgvs": [
        "NM_000240.3:c.1053-46A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000231.1:n.1053-46A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2595,
          "endIntronDirection": "-",
          "endIntronOffset": 45,
          "referenceAllele": "A",
          "start": 2595,
          "startIntronDirection": "-",
          "startIntronOffset": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006833",
      "geneNCBI_id": 4128,
      "geneSymbol": "MAOA",
      "hgvs": [
        "NM_001270458.1:c.654-46A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257387.1:n.654-46A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1095,
          "endIntronDirection": "-",
          "endIntronOffset": 45,
          "referenceAllele": "A",
          "start": 1095,
          "startIntronDirection": "-",
          "startIntronOffset": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006833",
      "geneNCBI_id": 4128,
      "geneSymbol": "MAOA",
      "hgvs": [
        "NM_000240.4:c.1053-46A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000231.1:n.1053-46A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674758",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338702.4:c.1053-46A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000240.4:c.1053-46A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340684.3:n.1053-46A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000231.1:n.1053-46A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2496,
          "endIntronDirection": "-",
          "endIntronOffset": 45,
          "referenceAllele": "A",
          "start": 2496,
          "startIntronDirection": "-",
          "startIntronOffset": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006833",
      "geneNCBI_id": 4128,
      "geneSymbol": "MAOA",
      "hgvs": [
        "NM_001270458.2:c.654-46A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257387.1:n.654-46A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715169"
    }
  ],
  "type": "nucleotide"
}