{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1139847561",
  "communityStandardTitle": [
    "NM_014698.3(TMEM63A):c.1864G= (p.Val622=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1009668",
        "rs": 1009668
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 225852703,
          "referenceAllele": "C",
          "start": 225852702
        }
      ],
      "hgvs": [
        "NC_000001.11:g.225852703C=",
        "CM000663.2:g.225852703C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 226040404,
          "referenceAllele": "C",
          "start": 226040403
        }
      ],
      "hgvs": [
        "NC_000001.10:g.226040404C=",
        "CM000663.1:g.226040404C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 224107027,
          "referenceAllele": "C",
          "start": 224107026
        }
      ],
      "hgvs": [
        "NC_000001.9:g.224107027C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2146,
          "referenceAllele": "G",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029118",
      "geneNCBI_id": 9725,
      "geneSymbol": "TMEM63A",
      "hgvs": [
        "ENST00000366835.8:c.1864G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355800.3:p.Val622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749864",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366835.8:c.1864G="
          },
          "RefSeq": {
            "hgvs": "NM_014698.3:c.1864G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355800.3:p.Val622="
          },
          "RefSeq": {
            "hgvs": "NP_055513.2:p.Val622="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2135,
          "referenceAllele": "G",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029118",
      "geneNCBI_id": 9725,
      "geneSymbol": "TMEM63A",
      "hgvs": [
        "ENST00000366835.7:c.1864G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355800.3:p.Val622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266045"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063874074",
      "coordinates": [
        {
          "allele": "G",
          "end": 2486,
          "referenceAllele": "G",
          "start": 2485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029118",
      "geneNCBI_id": 9725,
      "geneSymbol": "TMEM63A",
      "hgvs": [
        "NM_014698.2:c.1864G="
      ],
      "proteinEffect": {
        "hgvs": "NP_055513.2:p.Val622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1979,
          "referenceAllele": "G",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029118",
      "geneNCBI_id": 9725,
      "geneSymbol": "TMEM63A",
      "hgvs": [
        "XM_006711841.2:c.1333G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006711904.1:p.Val445="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2338,
          "referenceAllele": "G",
          "start": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029118",
      "geneNCBI_id": 9725,
      "geneSymbol": "TMEM63A",
      "hgvs": [
        "XM_011544328.1:c.1864G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542630.1:p.Val622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111240"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3605,
          "referenceAllele": "G",
          "start": 3604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029118",
      "geneNCBI_id": 9725,
      "geneSymbol": "TMEM63A",
      "hgvs": [
        "XM_011544329.1:c.1864G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542631.1:p.Val622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111241"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2295,
          "referenceAllele": "G",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029118",
      "geneNCBI_id": 9725,
      "geneSymbol": "TMEM63A",
      "hgvs": [
        "XM_011544330.1:c.1864G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542632.1:p.Val622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2082,
          "referenceAllele": "G",
          "start": 2081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029118",
      "geneNCBI_id": 9725,
      "geneSymbol": "TMEM63A",
      "hgvs": [
        "XM_011544331.1:c.1777G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542633.1:p.Val593="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2088,
          "referenceAllele": "G",
          "start": 2087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029118",
      "geneNCBI_id": 9725,
      "geneSymbol": "TMEM63A",
      "hgvs": [
        "XM_011544332.1:c.1423G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542634.1:p.Val475="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111244"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2169,
          "referenceAllele": "G",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029118",
      "geneNCBI_id": 9725,
      "geneSymbol": "TMEM63A",
      "hgvs": [
        "XR_949163.1:n.2169G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1979,
          "referenceAllele": "G",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029118",
      "geneNCBI_id": 9725,
      "geneSymbol": "TMEM63A",
      "hgvs": [
        "XM_006711841.4:c.1333G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006711904.1:p.Val445="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538101"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2338,
          "referenceAllele": "G",
          "start": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029118",
      "geneNCBI_id": 9725,
      "geneSymbol": "TMEM63A",
      "hgvs": [
        "XM_011544328.3:c.1864G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542630.1:p.Val622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2168,
          "referenceAllele": "G",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029118",
      "geneNCBI_id": 9725,
      "geneSymbol": "TMEM63A",
      "hgvs": [
        "XM_011544329.3:c.1864G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542631.1:p.Val622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2295,
          "referenceAllele": "G",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029118",
      "geneNCBI_id": 9725,
      "geneSymbol": "TMEM63A",
      "hgvs": [
        "XM_011544330.3:c.1864G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542632.1:p.Val622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2061,
          "referenceAllele": "G",
          "start": 2060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029118",
      "geneNCBI_id": 9725,
      "geneSymbol": "TMEM63A",
      "hgvs": [
        "XM_011544331.3:c.1777G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542633.1:p.Val593="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555612"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2094,
          "referenceAllele": "G",
          "start": 2093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029118",
      "geneNCBI_id": 9725,
      "geneSymbol": "TMEM63A",
      "hgvs": [
        "XM_011544332.3:c.1423G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542634.1:p.Val475="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1951,
          "referenceAllele": "G",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029118",
      "geneNCBI_id": 9725,
      "geneSymbol": "TMEM63A",
      "hgvs": [
        "XR_001737552.2:n.1951G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2148,
          "referenceAllele": "G",
          "start": 2147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029118",
      "geneNCBI_id": 9725,
      "geneSymbol": "TMEM63A",
      "hgvs": [
        "XR_949163.3:n.2148G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615233"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063874074",
      "coordinates": [
        {
          "allele": "G",
          "end": 2146,
          "referenceAllele": "G",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029118",
      "geneNCBI_id": 9725,
      "geneSymbol": "TMEM63A",
      "hgvs": [
        "NM_014698.3:c.1864G="
      ],
      "proteinEffect": {
        "hgvs": "NP_055513.2:p.Val622="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668459",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366835.8:c.1864G="
          },
          "RefSeq": {
            "hgvs": "NM_014698.3:c.1864G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355800.3:p.Val622="
          },
          "RefSeq": {
            "hgvs": "NP_055513.2:p.Val622="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}