{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA391617881",
  "communityStandardTitle": [
    "NM_001365088.1(SLC12A6):c.3031C>G (p.Arg1011Gly)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.34528920G>C?assembly=hg19",
        "id": "chr15:g.34528920G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.34236719G>C?assembly=hg38",
        "id": "chr15:g.34236719G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908427",
        "rs": 121908427
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 34236719,
          "referenceAllele": "G",
          "start": 34236718
        }
      ],
      "hgvs": [
        "NC_000015.10:g.34236719G>C",
        "CM000677.2:g.34236719G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 34528920,
          "referenceAllele": "G",
          "start": 34528919
        }
      ],
      "hgvs": [
        "NC_000015.9:g.34528920G>C",
        "CM000677.1:g.34528920G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 32316212,
          "referenceAllele": "G",
          "start": 32316211
        }
      ],
      "hgvs": [
        "NC_000015.8:g.32316212G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 106346,
          "referenceAllele": "C",
          "start": 106345
        }
      ],
      "hgvs": [
        "NG_007951.1:g.106346C>G",
        "LRG_270:g.106346C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000719"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3553,
          "referenceAllele": "C",
          "start": 3552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000354181.8:c.3031C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346112.3:p.Arg1011Gly",
        "hgvsWellDefined": "ENSP00000346112.3:p.Arg1011Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748536",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.3031C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.3031C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:p.Arg1011Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:p.Arg1011Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3813,
          "referenceAllele": "C",
          "start": 3812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000676379.1:c.3031C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502539.1:p.Arg1011Gly",
        "hgvsWellDefined": "ENSP00000502539.1:p.Arg1011Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776069"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2979,
          "referenceAllele": "C",
          "start": 2978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000290209.9:c.2878C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290209.5:p.Arg960Gly",
        "hgvsWellDefined": "ENSP00000290209.5:p.Arg960Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253627"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3524,
          "referenceAllele": "C",
          "start": 3523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000354181.7:c.3031C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346112.3:p.Arg1011Gly",
        "hgvsWellDefined": "ENSP00000346112.3:p.Arg1011Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263033"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3052,
          "referenceAllele": "C",
          "start": 3051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000397702.6:c.2854C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380814.2:p.Arg952Gly",
        "hgvsWellDefined": "ENSP00000380814.2:p.Arg952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277938"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3150,
          "referenceAllele": "C",
          "start": 3149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000397707.6:c.2986C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380819.2:p.Arg996Gly",
        "hgvsWellDefined": "ENSP00000380819.2:p.Arg996Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3381,
          "referenceAllele": "C",
          "start": 3380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000458406.6:c.2854C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387725.2:p.Arg952Gly",
        "hgvsWellDefined": "ENSP00000387725.2:p.Arg952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3444,
          "referenceAllele": "C",
          "start": 3443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558589.5:c.3004C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452776.1:p.Arg1002Gly",
        "hgvsWellDefined": "ENSP00000452776.1:p.Arg1002Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373919"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3134,
          "referenceAllele": "C",
          "start": 3133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558667.5:c.3031C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453473.1:p.Arg1011Gly",
        "hgvsWellDefined": "ENSP00000453473.1:p.Arg1011Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373977"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3410,
          "referenceAllele": "C",
          "start": 3409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559523.5:c.*54C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452904.1:n.*54C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4067,
          "referenceAllele": "C",
          "start": 4066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559664.5:c.*240C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453702.1:n.*240C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374763"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2703,
          "referenceAllele": "C",
          "start": 2702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560164.5:c.2467C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452705.1:p.Arg823Gly",
        "hgvsWellDefined": "ENSP00000452705.1:p.Arg823Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375147"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3195,
          "referenceAllele": "C",
          "start": 3194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560611.5:c.3031C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454168.1:p.Arg1011Gly",
        "hgvsWellDefined": "ENSP00000454168.1:p.Arg1011Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375479"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4367,
          "referenceAllele": "C",
          "start": 4366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000561080.5:c.*269C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454069.1:n.*269C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3381,
          "referenceAllele": "C",
          "start": 3380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.1:c.2854C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:p.Arg952Gly",
        "hgvsWellDefined": "NP_001035959.1:p.Arg952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3056,
          "referenceAllele": "C",
          "start": 3055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.1:c.2854C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:p.Arg952Gly",
        "hgvsWellDefined": "NP_001035960.1:p.Arg952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081920239",
      "coordinates": [
        {
          "allele": "G",
          "end": 3447,
          "referenceAllele": "C",
          "start": 3446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.1:c.3004C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:p.Arg1002Gly",
        "hgvsWellDefined": "NP_001035961.1:p.Arg1002Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3150,
          "referenceAllele": "C",
          "start": 3149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.1:c.2986C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:p.Arg996Gly",
        "hgvsWellDefined": "NP_001035962.1:p.Arg996Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009726"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3020,
          "referenceAllele": "C",
          "start": 3019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_005135.2:c.2878C>G",
        "LRG_270t1:c.2878C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005126.1:p.Arg960Gly",
        "hgvsWellDefined": "NP_005126.1:p.Arg960Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030257"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3195,
          "referenceAllele": "C",
          "start": 3194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.1:c.3031C>G",
        "LRG_270t2:c.3031C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:p.Arg1011Gly",
        "hgvsWellDefined": "NP_598408.1:p.Arg1011Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040581"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2890,
          "referenceAllele": "C",
          "start": 2889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.2:c.2884C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:p.Arg962Gly",
        "hgvsWellDefined": "XP_006720856.1:p.Arg962Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3511,
          "referenceAllele": "C",
          "start": 3510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522267.1:c.3031C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520569.1:p.Arg1011Gly",
        "hgvsWellDefined": "XP_011520569.1:p.Arg1011Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089422"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3200,
          "referenceAllele": "C",
          "start": 3199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522268.1:c.3031C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520570.1:p.Arg1011Gly",
        "hgvsWellDefined": "XP_011520570.1:p.Arg1011Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3037,
          "referenceAllele": "C",
          "start": 3036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_429476.2:n.3037C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3066,
          "referenceAllele": "C",
          "start": 3065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931960.1:n.3066C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3553,
          "referenceAllele": "C",
          "start": 3552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001365088.1:c.3031C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352017.1:p.Arg1011Gly",
        "hgvsWellDefined": "NP_001352017.1:p.Arg1011Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.3031C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.3031C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:p.Arg1011Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:p.Arg1011Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4131,
          "referenceAllele": "C",
          "start": 4130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.4:c.2884C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:p.Arg962Gly",
        "hgvsWellDefined": "XP_006720856.1:p.Arg962Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540170"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4310,
          "referenceAllele": "C",
          "start": 4309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931960.3:n.4310C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3402,
          "referenceAllele": "C",
          "start": 3401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.2:c.2854C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:p.Arg952Gly",
        "hgvsWellDefined": "NP_001035959.1:p.Arg952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676038"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3049,
          "referenceAllele": "C",
          "start": 3048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.2:c.2854C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:p.Arg952Gly",
        "hgvsWellDefined": "NP_001035960.1:p.Arg952Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676039"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081920239",
      "coordinates": [
        {
          "allele": "G",
          "end": 3468,
          "referenceAllele": "C",
          "start": 3467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.2:c.3004C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:p.Arg1002Gly",
        "hgvsWellDefined": "NP_001035961.1:p.Arg1002Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676040"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3322,
          "referenceAllele": "C",
          "start": 3321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.2:c.2986C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:p.Arg996Gly",
        "hgvsWellDefined": "NP_001035962.1:p.Arg996Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3367,
          "referenceAllele": "C",
          "start": 3366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.2:c.3031C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:p.Arg1011Gly",
        "hgvsWellDefined": "NP_598408.1:p.Arg1011Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729120"
    }
  ],
  "type": "nucleotide"
}