{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10414155",
  "communityStandardTitle": [
    "NM_003886.3(AKAP4):c.2018C>G (p.Ala673Gly)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-49957346-G-C",
        "id": "X-49957346-G-C",
        "variant": "X:49957346 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49957346G>C?assembly=hg19",
        "id": "chrX:g.49957346G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.50192695G>C?assembly=hg38",
        "id": "chrX:g.50192695G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12012704",
        "rs": 12012704
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-49957346-G-C?dataset=gnomad_r2_1",
        "id": "X-49957346-G-C",
        "variant": "X:49957346 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-50192695-G-C?dataset=gnomad_r3",
        "id": "X-50192695-G-C",
        "variant": "X:50192695 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-50192695-G-C?dataset=gnomad_r4",
        "id": "X-50192695-G-C",
        "variant": "X:50192695 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 50192695,
          "referenceAllele": "G",
          "start": 50192694
        }
      ],
      "hgvs": [
        "NC_000023.11:g.50192695G>C",
        "CM000685.2:g.50192695G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 49957346,
          "referenceAllele": "G",
          "start": 49957345
        }
      ],
      "hgvs": [
        "NC_000023.10:g.49957346G>C",
        "CM000685.1:g.49957346G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 49844086,
          "referenceAllele": "G",
          "start": 49844085
        }
      ],
      "hgvs": [
        "NC_000023.9:g.49844086G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13319,
          "referenceAllele": "C",
          "start": 13318
        }
      ],
      "hgvs": [
        "NG_012552.1:g.13319C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002456"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13319,
          "referenceAllele": "C",
          "start": 13318
        }
      ],
      "hgvs": [
        "NG_012552.2:g.13319C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616183"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2136,
          "referenceAllele": "C",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000374",
      "geneNCBI_id": 8852,
      "geneSymbol": "AKAP4",
      "hgvs": [
        "ENST00000358526.7:c.2018C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351327.2:p.Ala673Gly",
        "hgvsWellDefined": "ENSP00000351327.2:p.Ala673Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749084",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358526.7:c.2018C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003886.3:c.2018C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351327.2:p.Ala673Gly"
          },
          "RefSeq": {
            "hgvs": "NP_003877.2:p.Ala673Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2142,
          "referenceAllele": "C",
          "start": 2141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000374",
      "geneNCBI_id": 8852,
      "geneSymbol": "AKAP4",
      "hgvs": [
        "ENST00000358526.6:c.2018C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351327.2:p.Ala673Gly",
        "hgvsWellDefined": "ENSP00000351327.2:p.Ala673Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2134,
          "referenceAllele": "C",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000374",
      "geneNCBI_id": 8852,
      "geneSymbol": "AKAP4",
      "hgvs": [
        "ENST00000376064.7:c.1991C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365232.3:p.Ala664Gly",
        "hgvsWellDefined": "ENSP00000365232.3:p.Ala664Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2130,
          "referenceAllele": "C",
          "start": 2129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000374",
      "geneNCBI_id": 8852,
      "geneSymbol": "AKAP4",
      "hgvs": [
        "ENST00000481402.5:n.2130C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321319"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063189995",
      "coordinates": [
        {
          "allele": "G",
          "end": 2142,
          "referenceAllele": "C",
          "start": 2141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000374",
      "geneNCBI_id": 8852,
      "geneSymbol": "AKAP4",
      "hgvs": [
        "NM_003886.2:c.2018C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003877.2:p.Ala673Gly",
        "hgvsWellDefined": "NP_003877.2:p.Ala673Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029101"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2115,
          "referenceAllele": "C",
          "start": 2114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000374",
      "geneNCBI_id": 8852,
      "geneSymbol": "AKAP4",
      "hgvs": [
        "NM_139289.1:c.1991C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_647450.1:p.Ala664Gly",
        "hgvsWellDefined": "NP_647450.1:p.Ala664Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063189995",
      "coordinates": [
        {
          "allele": "G",
          "end": 2136,
          "referenceAllele": "C",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000374",
      "geneNCBI_id": 8852,
      "geneSymbol": "AKAP4",
      "hgvs": [
        "NM_003886.3:c.2018C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003877.2:p.Ala673Gly",
        "hgvsWellDefined": "NP_003877.2:p.Ala673Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666231",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358526.7:c.2018C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003886.3:c.2018C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351327.2:p.Ala673Gly"
          },
          "RefSeq": {
            "hgvs": "NP_003877.2:p.Ala673Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2134,
          "referenceAllele": "C",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000374",
      "geneNCBI_id": 8852,
      "geneSymbol": "AKAP4",
      "hgvs": [
        "NM_139289.2:c.1991C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_647450.1:p.Ala664Gly",
        "hgvsWellDefined": "NP_647450.1:p.Ala664Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699870"
    }
  ],
  "type": "nucleotide"
}