{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127389",
  "communityStandardTitle": [
    "NM_000342.4(SLC4A1):c.1838C>T (p.Ser613Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32804[alleleid]",
        "alleleId": 32804,
        "preferredName": "NM_000342.4(SLC4A1):c.1838C>T (p.Ser613Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17765",
        "RCV": [
          "RCV000019342"
        ],
        "variationId": 17765
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42332627G>A?assembly=hg19",
        "id": "chr17:g.42332627G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44255259G>A?assembly=hg38",
        "id": "chr17:g.44255259G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912746",
        "rs": 121912746
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 44255259,
          "referenceAllele": "G",
          "start": 44255258
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44255259G>A",
        "CM000679.2:g.44255259G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 42332627,
          "referenceAllele": "G",
          "start": 42332626
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42332627G>A",
        "CM000679.1:g.42332627G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 39688153,
          "referenceAllele": "G",
          "start": 39688152
        }
      ],
      "hgvs": [
        "NC_000017.9:g.39688153G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17876,
          "referenceAllele": "C",
          "start": 17875
        }
      ],
      "hgvs": [
        "NG_007498.1:g.17876C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000620"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1988,
          "referenceAllele": "C",
          "start": 1987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "ENST00000262418.12:c.1838C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262418.6:p.Ser613Phe",
        "hgvsWellDefined": "ENSP00000262418.6:p.Ser613Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262418.12:c.1838C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000342.4:c.1838C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262418.6:p.Ser613Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000333.1:p.Ser613Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1994,
          "referenceAllele": "C",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "ENST00000262418.10:c.1838C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262418.6:p.Ser613Phe",
        "hgvsWellDefined": "ENSP00000262418.6:p.Ser613Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 926,
          "endIntronDirection": "-",
          "endIntronOffset": 37,
          "referenceAllele": "C",
          "start": 926,
          "startIntronDirection": "-",
          "startIntronOffset": 38
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "ENST00000399246.3:c.778-38C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382190.3:n.778-38C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094443",
      "coordinates": [
        {
          "allele": "T",
          "end": 1987,
          "referenceAllele": "C",
          "start": 1986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "NM_000342.3:c.1838C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000333.1:p.Ser613Phe",
        "hgvsWellDefined": "NP_000333.1:p.Ser613Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1761,
          "referenceAllele": "C",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_005257593.3:c.1643C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257650.1:p.Ser548Phe",
        "hgvsWellDefined": "XP_005257650.1:p.Ser548Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1976,
          "endIntronDirection": "+",
          "endIntronOffset": 414,
          "referenceAllele": "C",
          "start": 1976,
          "startIntronDirection": "+",
          "startIntronOffset": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525129.1:c.1800+414C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523431.1:n.1800+414C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2014,
          "referenceAllele": "C",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525130.1:c.1838C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523432.1:p.Ser613Phe",
        "hgvsWellDefined": "XP_011523432.1:p.Ser613Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2014,
          "referenceAllele": "C",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525131.1:c.1838C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523433.1:p.Ser613Phe",
        "hgvsWellDefined": "XP_011523433.1:p.Ser613Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1755,
          "referenceAllele": "C",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_005257593.5:c.1643C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257650.1:p.Ser548Phe",
        "hgvsWellDefined": "XP_005257650.1:p.Ser548Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1976,
          "endIntronDirection": "+",
          "endIntronOffset": 414,
          "referenceAllele": "C",
          "start": 1976,
          "startIntronDirection": "+",
          "startIntronOffset": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "XM_011525129.2:c.1800+414C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523431.1:n.1800+414C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094443",
      "coordinates": [
        {
          "allele": "T",
          "end": 1988,
          "referenceAllele": "C",
          "start": 1987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011027",
      "geneNCBI_id": 6521,
      "geneSymbol": "SLC4A1",
      "hgvs": [
        "NM_000342.4:c.1838C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000333.1:p.Ser613Phe",
        "hgvsWellDefined": "NP_000333.1:p.Ser613Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662408",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262418.12:c.1838C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000342.4:c.1838C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262418.6:p.Ser613Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000333.1:p.Ser613Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}