{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA221401",
  "communityStandardTitle": [
    "NM_000157.4(GBA1):c.508C>T (p.Arg170Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99358[alleleid]",
        "alleleId": 99358,
        "preferredName": "NM_000157.4(GBA1):c.508C>T (p.Arg170Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93453",
        "RCV": [
          "RCV000179353",
          "RCV001004135",
          "RCV001249029"
        ],
        "variationId": 93453
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.155208388G>A?assembly=hg19",
        "id": "chr1:g.155208388G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.155238597G>A?assembly=hg38",
        "id": "chr1:g.155238597G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398123530",
        "rs": 398123530
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-155208388-G-A?dataset=gnomad_r2_1",
        "id": "1-155208388-G-A",
        "variant": "1:155208388 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-155238597-G-A?dataset=gnomad_r3",
        "id": "1-155238597-G-A",
        "variant": "1:155238597 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-155238597-G-A?dataset=gnomad_r4",
        "id": "1-155238597-G-A",
        "variant": "1:155238597 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 155238597,
          "referenceAllele": "G",
          "start": 155238596
        }
      ],
      "hgvs": [
        "NC_000001.11:g.155238597G>A",
        "CM000663.2:g.155238597G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 155208388,
          "referenceAllele": "G",
          "start": 155208387
        }
      ],
      "hgvs": [
        "NC_000001.10:g.155208388G>A",
        "CM000663.1:g.155208388G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 153475012,
          "referenceAllele": "G",
          "start": 153475011
        }
      ],
      "hgvs": [
        "NC_000001.9:g.153475012G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11101,
          "referenceAllele": "C",
          "start": 11100
        }
      ],
      "hgvs": [
        "NG_009783.1:g.11101C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001638"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 645,
          "referenceAllele": "C",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000368373.8:c.508C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357357.3:p.Arg170Cys",
        "hgvsWellDefined": "ENSP00000357357.3:p.Arg170Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368373.8:c.508C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000157.4:c.508C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357357.3:p.Arg170Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000148.2:p.Arg170Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 741,
          "referenceAllele": "C",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000327247.9:c.508C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314508.5:p.Arg170Cys",
        "hgvsWellDefined": "ENSP00000314508.5:p.Arg170Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258734"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "referenceAllele": "C",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000368373.7:c.508C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357357.3:p.Arg170Cys",
        "hgvsWellDefined": "ENSP00000357357.3:p.Arg170Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 524,
          "referenceAllele": "C",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000427500.7:c.361C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402577.2:p.Arg121Cys",
        "hgvsWellDefined": "ENSP00000402577.2:p.Arg121Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "referenceAllele": "C",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000428024.3:c.247C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397986.2:p.Arg83Cys",
        "hgvsWellDefined": "ENSP00000397986.2:p.Arg83Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 295,
          "referenceAllele": "C",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000460156.1:n.295C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000473570.5:n.829C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 339,
          "endIntronDirection": "+",
          "endIntronOffset": 1376,
          "referenceAllele": "C",
          "start": 339,
          "startIntronDirection": "+",
          "startIntronOffset": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000484489.5:n.339+1376C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323732"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 113,
          "referenceAllele": "C",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000491081.5:n.113C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000493842.5:n.846C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330904"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 131,
          "referenceAllele": "C",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000497670.5:n.131C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333851"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093878",
      "coordinates": [
        {
          "allele": "T",
          "end": 674,
          "referenceAllele": "C",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_000157.3:c.508C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000148.2:p.Arg170Cys",
        "hgvsWellDefined": "NP_000148.2:p.Arg170Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA221402",
      "coordinates": [
        {
          "allele": "T",
          "end": 933,
          "referenceAllele": "C",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001005741.2:c.508C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005741.1:p.Arg170Cys",
        "hgvsWellDefined": "NP_001005741.1:p.Arg170Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825277710",
      "coordinates": [
        {
          "allele": "T",
          "end": 914,
          "referenceAllele": "C",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001005742.2:c.508C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005742.1:p.Arg170Cys",
        "hgvsWellDefined": "NP_001005742.1:p.Arg170Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915991806",
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001171811.1:c.247C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165282.1:p.Arg83Cys",
        "hgvsWellDefined": "NP_001165282.1:p.Arg83Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015366"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088931",
      "coordinates": [
        {
          "allele": "T",
          "end": 524,
          "referenceAllele": "C",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001171812.1:c.361C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165283.1:p.Arg121Cys",
        "hgvsWellDefined": "NP_001165283.1:p.Arg121Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 837,
          "referenceAllele": "C",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "XM_006711270.1:c.508C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711333.1:p.Arg170Cys",
        "hgvsWellDefined": "XP_006711333.1:p.Arg170Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 918,
          "referenceAllele": "C",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "XM_011509407.1:c.508C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507709.1:p.Arg170Cys",
        "hgvsWellDefined": "XP_011507709.1:p.Arg170Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076675"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093878",
      "coordinates": [
        {
          "allele": "T",
          "end": 645,
          "referenceAllele": "C",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_000157.4:c.508C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000148.2:p.Arg170Cys",
        "hgvsWellDefined": "NP_000148.2:p.Arg170Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662330",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368373.8:c.508C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000157.4:c.508C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357357.3:p.Arg170Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000148.2:p.Arg170Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA221402",
      "coordinates": [
        {
          "allele": "T",
          "end": 698,
          "referenceAllele": "C",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001005741.3:c.508C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005741.1:p.Arg170Cys",
        "hgvsWellDefined": "NP_001005741.1:p.Arg170Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825277710",
      "coordinates": [
        {
          "allele": "T",
          "end": 679,
          "referenceAllele": "C",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001005742.3:c.508C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005742.1:p.Arg170Cys",
        "hgvsWellDefined": "NP_001005742.1:p.Arg170Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915991806",
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "C",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001171811.2:c.247C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165282.1:p.Arg83Cys",
        "hgvsWellDefined": "NP_001165282.1:p.Arg83Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678712"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088931",
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "referenceAllele": "C",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001171812.2:c.361C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165283.1:p.Arg121Cys",
        "hgvsWellDefined": "NP_001165283.1:p.Arg121Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678713"
    }
  ],
  "type": "nucleotide"
}