{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2068993914",
  "communityStandardTitle": [
    "NM_012463.4(ATP6V0A2):c.1929A= (p.Thr643=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80356756",
        "rs": 80356756
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1566290164",
        "rs": 1566290164
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 123748779,
          "referenceAllele": "A",
          "start": 123748778
        }
      ],
      "hgvs": [
        "NC_000012.12:g.123748779A=",
        "CM000674.2:g.123748779A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 124233326,
          "referenceAllele": "A",
          "start": 124233325
        }
      ],
      "hgvs": [
        "NC_000012.11:g.124233326A=",
        "CM000674.1:g.124233326A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 122799279,
          "referenceAllele": "A",
          "start": 122799278
        }
      ],
      "hgvs": [
        "NC_000012.10:g.122799279A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 41462,
          "referenceAllele": "A",
          "start": 41461
        }
      ],
      "hgvs": [
        "NG_012743.1:g.41462A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002522"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2142,
          "referenceAllele": "A",
          "start": 2141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "ENST00000330342.8:c.1929A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332247.2:p.Thr643="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747056",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000330342.8:c.1929A="
          },
          "RefSeq": {
            "hgvs": "NM_012463.4:c.1929A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332247.2:p.Thr643="
          },
          "RefSeq": {
            "hgvs": "NP_036595.2:p.Thr643="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1960,
          "referenceAllele": "A",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "ENST00000540368.6:n.1960A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2017,
          "referenceAllele": "A",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "ENST00000674794.1:c.2017A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774708"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1204,
          "referenceAllele": "A",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "ENST00000675260.1:n.1204A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2113,
          "referenceAllele": "A",
          "start": 2112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "ENST00000675344.1:c.*950A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501953.1:n.*950A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2177,
          "referenceAllele": "A",
          "start": 2176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "ENST00000330342.7:c.1929A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332247.2:p.Thr643="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259223"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079285201",
      "coordinates": [
        {
          "allele": "A",
          "end": 2177,
          "referenceAllele": "A",
          "start": 2176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "NM_012463.3:c.1929A="
      ],
      "proteinEffect": {
        "hgvs": "NP_036595.2:p.Thr643="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2092,
          "referenceAllele": "A",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "XM_005253563.1:c.1929A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253620.1:p.Thr643="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060335"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1495,
          "referenceAllele": "A",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "XM_006719317.2:c.1416A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719380.1:p.Thr472="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1205,
          "referenceAllele": "A",
          "start": 1204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "XM_006719318.2:c.1107A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719381.1:p.Thr369="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2092,
          "referenceAllele": "A",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "XR_429088.1:n.2092A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2092,
          "referenceAllele": "A",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "XM_024448910.1:c.1929A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304678.1:p.Thr643="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1517,
          "referenceAllele": "A",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "XM_024448911.1:c.1416A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304679.1:p.Thr472="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1225,
          "referenceAllele": "A",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "XM_024448912.1:c.1107A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304680.1:p.Thr369="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079285201",
      "coordinates": [
        {
          "allele": "A",
          "end": 2142,
          "referenceAllele": "A",
          "start": 2141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018481",
      "geneNCBI_id": 23545,
      "geneSymbol": "ATP6V0A2",
      "hgvs": [
        "NM_012463.4:c.1929A="
      ],
      "proteinEffect": {
        "hgvs": "NP_036595.2:p.Thr643="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668056",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000330342.8:c.1929A="
          },
          "RefSeq": {
            "hgvs": "NM_012463.4:c.1929A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332247.2:p.Thr643="
          },
          "RefSeq": {
            "hgvs": "NP_036595.2:p.Thr643="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}