{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA210834",
  "communityStandardTitle": [
    "NM_000342.4(SLC4A1):c.2279G>A (p.Arg760Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32819[alleleid]",
        "alleleId": 32819,
        "preferredName": "NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17780",
        "RCV": [
          "RCV000019358",
          "RCV002227042"
        ],
        "variationId": 17780
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42330518C>T?assembly=hg19",
        "id": "chr17:g.42330518C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44253150C>T?assembly=hg38",
        "id": "chr17:g.44253150C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912755",
        "rs": 121912755
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44253150-C-T?dataset=gnomad_r4",
        "id": "17-44253150-C-T",
        "variant": "17:44253150 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 44253150,
          "referenceAllele": "C",
          "start": 44253149
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44253150C>T",
        "CM000679.2:g.44253150C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 42330518,
          "referenceAllele": "C",
          "start": 42330517
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42330518C>T",
        "CM000679.1:g.42330518C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 39686044,
          "referenceAllele": "C",
          "start": 39686043
        }
      ],
      "hgvs": [
        "NC_000017.9:g.39686044C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19985,
          "referenceAllele": "G",
          "start": 19984
        }
      ],
      "hgvs": [
        "NG_007498.1:g.19985G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000620"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2429,
          "referenceAllele": "G",
          "start": 2428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "ENST00000262418.12:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262418.6:p.Arg760Gln",
        "hgvsWellDefined": "ENSP00000262418.6:p.Arg760Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262418.12:c.2279G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000342.4:c.2279G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262418.6:p.Arg760Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000333.1:p.Arg760Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2435,
          "referenceAllele": "G",
          "start": 2434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "ENST00000262418.10:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262418.6:p.Arg760Gln",
        "hgvsWellDefined": "ENSP00000262418.6:p.Arg760Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1330,
          "referenceAllele": "G",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "ENST00000399246.3:c.1181G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382190.3:p.Arg394Gln",
        "hgvsWellDefined": "ENSP00000382190.3:p.Arg394Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094231",
      "coordinates": [
        {
          "allele": "A",
          "end": 2428,
          "referenceAllele": "G",
          "start": 2427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "NM_000342.3:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000333.1:p.Arg760Gln",
        "hgvsWellDefined": "NP_000333.1:p.Arg760Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006405"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2202,
          "referenceAllele": "G",
          "start": 2201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_005257593.3:c.2084G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257650.1:p.Arg695Gln",
        "hgvsWellDefined": "XP_005257650.1:p.Arg695Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061764"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2365,
          "referenceAllele": "G",
          "start": 2364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525129.1:c.2189G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523431.1:p.Arg730Gln",
        "hgvsWellDefined": "XP_011523431.1:p.Arg730Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092248"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2455,
          "referenceAllele": "G",
          "start": 2454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525130.1:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523432.1:p.Arg760Gln",
        "hgvsWellDefined": "XP_011523432.1:p.Arg760Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092249"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2196,
          "referenceAllele": "G",
          "start": 2195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_005257593.5:c.2084G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257650.1:p.Arg695Gln",
        "hgvsWellDefined": "XP_005257650.1:p.Arg695Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2365,
          "referenceAllele": "G",
          "start": 2364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525129.2:c.2189G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523431.1:p.Arg730Gln",
        "hgvsWellDefined": "XP_011523431.1:p.Arg730Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094231",
      "coordinates": [
        {
          "allele": "A",
          "end": 2429,
          "referenceAllele": "G",
          "start": 2428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "NM_000342.4:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000333.1:p.Arg760Gln",
        "hgvsWellDefined": "NP_000333.1:p.Arg760Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662408",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262418.12:c.2279G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000342.4:c.2279G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262418.6:p.Arg760Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000333.1:p.Arg760Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}