{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA144684",
  "communityStandardTitle": [
    "NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=75321[alleleid]",
        "alleleId": 75321,
        "preferredName": "NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/64355",
        "RCV": [
          "RCV000054548"
        ],
        "variationId": 64355
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-101542517-T-C",
        "id": "9-101542517-T-C",
        "variant": "9:101542517 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.101542517T>C?assembly=hg19",
        "id": "chr9:g.101542517T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98780235T>C?assembly=hg38",
        "id": "chr9:g.98780235T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/377750405",
        "rs": 377750405
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-101542517-T-C?dataset=gnomad_r2_1",
        "id": "9-101542517-T-C",
        "variant": "9:101542517 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-98780235-T-C?dataset=gnomad_r3",
        "id": "9-98780235-T-C",
        "variant": "9:98780235 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-98780235-T-C?dataset=gnomad_r4",
        "id": "9-98780235-T-C",
        "variant": "9:98780235 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 98780235,
          "referenceAllele": "T",
          "start": 98780234
        }
      ],
      "hgvs": [
        "NC_000009.12:g.98780235T>C",
        "CM000671.2:g.98780235T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 101542517,
          "referenceAllele": "T",
          "start": 101542516
        }
      ],
      "hgvs": [
        "NC_000009.11:g.101542517T>C",
        "CM000671.1:g.101542517T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 100582338,
          "referenceAllele": "T",
          "start": 100582337
        }
      ],
      "hgvs": [
        "NC_000009.10:g.100582338T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21308,
          "referenceAllele": "A",
          "start": 21307
        }
      ],
      "hgvs": [
        "NG_042237.1:g.21308A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005970"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1386,
          "referenceAllele": "A",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "ENST00000353234.5:c.1322A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297837.6:p.Gln441Arg",
        "hgvsWellDefined": "ENSP00000297837.6:p.Gln441Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748515",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000353234.5:c.1322A>G"
          },
          "RefSeq": {
            "hgvs": "NM_173551.5:c.1322A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297837.6:p.Gln441Arg"
          },
          "RefSeq": {
            "hgvs": "NP_775822.3:p.Gln441Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1370,
          "referenceAllele": "A",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "ENST00000353234.4:c.1322A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297837.6:p.Gln441Arg",
        "hgvsWellDefined": "ENSP00000297837.6:p.Gln441Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262947"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 742,
          "referenceAllele": "A",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "ENST00000375019.6:c.419A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364159.2:p.Gln140Arg",
        "hgvsWellDefined": "ENSP00000364159.2:p.Gln140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270522"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 422,
          "referenceAllele": "A",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "ENST00000634393.1:n.422A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407806"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105039",
      "coordinates": [
        {
          "allele": "G",
          "end": 1343,
          "referenceAllele": "A",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "NM_173551.3:c.1322A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_775822.3:p.Gln441Arg",
        "hgvsWellDefined": "NP_775822.3:p.Gln441Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042906"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105039",
      "coordinates": [
        {
          "allele": "G",
          "end": 1373,
          "referenceAllele": "A",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "NM_173551.4:c.1322A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_775822.3:p.Gln441Arg",
        "hgvsWellDefined": "NP_775822.3:p.Gln441Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1361,
          "referenceAllele": "A",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "XM_005251793.3:c.1322A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251850.1:p.Gln441Arg",
        "hgvsWellDefined": "XP_005251850.1:p.Gln441Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1361,
          "referenceAllele": "A",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "XM_005251794.3:c.1322A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251851.1:p.Gln441Arg",
        "hgvsWellDefined": "XP_005251851.1:p.Gln441Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059677"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1361,
          "referenceAllele": "A",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "XM_006716998.2:c.1322A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717061.1:p.Gln441Arg",
        "hgvsWellDefined": "XP_006717061.1:p.Gln441Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071943"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2445,
          "referenceAllele": "A",
          "start": 2444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "XM_006716999.2:c.1148A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717062.1:p.Gln383Arg",
        "hgvsWellDefined": "XP_006717062.1:p.Gln383Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071944"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1362,
          "referenceAllele": "A",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "XM_011518356.1:c.1322A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516658.1:p.Gln441Arg",
        "hgvsWellDefined": "XP_011516658.1:p.Gln441Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 427,
          "referenceAllele": "A",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "XM_011518357.1:c.332A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516659.1:p.Gln111Arg",
        "hgvsWellDefined": "XP_011516659.1:p.Gln111Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1360,
          "referenceAllele": "A",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "XR_242576.3:n.1360A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1361,
          "referenceAllele": "A",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "XR_428520.2:n.1361A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118089"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1361,
          "referenceAllele": "A",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "XR_929736.1:n.1361A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125865"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 427,
          "referenceAllele": "A",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "XR_929737.1:n.427A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1360,
          "referenceAllele": "A",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "XM_005251793.4:c.1322A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251850.1:p.Gln441Arg",
        "hgvsWellDefined": "XP_005251850.1:p.Gln441Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1360,
          "referenceAllele": "A",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "XM_005251794.4:c.1322A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251851.1:p.Gln441Arg",
        "hgvsWellDefined": "XP_005251851.1:p.Gln441Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1360,
          "referenceAllele": "A",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "XM_006716998.3:c.1322A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717061.1:p.Gln441Arg",
        "hgvsWellDefined": "XP_006717061.1:p.Gln441Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3043,
          "referenceAllele": "A",
          "start": 3042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "XM_006716999.3:c.1148A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717062.1:p.Gln383Arg",
        "hgvsWellDefined": "XP_006717062.1:p.Gln383Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1360,
          "referenceAllele": "A",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "XM_017014445.1:c.1322A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869934.1:p.Gln441Arg",
        "hgvsWellDefined": "XP_016869934.1:p.Gln441Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 154,
          "referenceAllele": "A",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "XM_017014447.1:c.71A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869936.1:p.Gln24Arg",
        "hgvsWellDefined": "XP_016869936.1:p.Gln24Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567413"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2044,
          "referenceAllele": "A",
          "start": 2043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "XM_024447445.1:c.1040A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303213.1:p.Gln347Arg",
        "hgvsWellDefined": "XP_024303213.1:p.Gln347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581027"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1046,
          "referenceAllele": "A",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "XM_024447447.1:c.737A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303215.1:p.Gln246Arg",
        "hgvsWellDefined": "XP_024303215.1:p.Gln246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581029"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 427,
          "referenceAllele": "A",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "XR_001746230.1:n.427A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594584"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1360,
          "referenceAllele": "A",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "XR_428520.3:n.1360A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606565"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1360,
          "referenceAllele": "A",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "XR_929736.2:n.1360A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105039",
      "coordinates": [
        {
          "allele": "G",
          "end": 1386,
          "referenceAllele": "A",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026724",
      "geneNCBI_id": 203286,
      "geneSymbol": "ANKS6",
      "hgvs": [
        "NM_173551.5:c.1322A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_775822.3:p.Gln441Arg",
        "hgvsWellDefined": "NP_775822.3:p.Gln441Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672670",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000353234.5:c.1322A>G"
          },
          "RefSeq": {
            "hgvs": "NM_173551.5:c.1322A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297837.6:p.Gln441Arg"
          },
          "RefSeq": {
            "hgvs": "NP_775822.3:p.Gln441Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}