{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342712884",
  "communityStandardTitle": [
    "NM_000157.4(GBA1):c.1342G>A (p.Asp448Asn)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.155205518C>T?assembly=hg19",
        "id": "chr1:g.155205518C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.155235727C>T?assembly=hg38",
        "id": "chr1:g.155235727C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064651",
        "rs": 1064651
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-155235727-C-T?dataset=gnomad_r4",
        "id": "1-155235727-C-T",
        "variant": "1:155235727 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 155235727,
          "referenceAllele": "C",
          "start": 155235726
        }
      ],
      "hgvs": [
        "NC_000001.11:g.155235727C>T",
        "CM000663.2:g.155235727C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 155205518,
          "referenceAllele": "C",
          "start": 155205517
        }
      ],
      "hgvs": [
        "NC_000001.10:g.155205518C>T",
        "CM000663.1:g.155205518C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 153472142,
          "referenceAllele": "C",
          "start": 153472141
        }
      ],
      "hgvs": [
        "NC_000001.9:g.153472142C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13971,
          "referenceAllele": "G",
          "start": 13970
        }
      ],
      "hgvs": [
        "NG_009783.1:g.13971G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001638"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1479,
          "referenceAllele": "G",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000368373.8:c.1342G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357357.3:p.Asp448Asn",
        "hgvsWellDefined": "ENSP00000357357.3:p.Asp448Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368373.8:c.1342G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000157.4:c.1342G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357357.3:p.Asp448Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000148.2:p.Asp448Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1575,
          "referenceAllele": "G",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000327247.9:c.1342G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314508.5:p.Asp448Asn",
        "hgvsWellDefined": "ENSP00000314508.5:p.Asp448Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1464,
          "referenceAllele": "G",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000368373.7:c.1342G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357357.3:p.Asp448Asn",
        "hgvsWellDefined": "ENSP00000357357.3:p.Asp448Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1358,
          "referenceAllele": "G",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000427500.7:c.1195G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402577.2:p.Asp399Asn",
        "hgvsWellDefined": "ENSP00000402577.2:p.Asp399Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289731"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1421,
          "referenceAllele": "G",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000428024.3:c.1081G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397986.2:p.Asp361Asn",
        "hgvsWellDefined": "ENSP00000397986.2:p.Asp361Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 109,
          "referenceAllele": "G",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000464536.1:n.109G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308343"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 333,
          "referenceAllele": "G",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000478472.1:n.333G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 501,
          "referenceAllele": "G",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "ENST00000484489.5:n.501G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323732"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063874122",
      "coordinates": [
        {
          "allele": "A",
          "end": 1508,
          "referenceAllele": "G",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_000157.3:c.1342G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000148.2:p.Asp448Asn",
        "hgvsWellDefined": "NP_000148.2:p.Asp448Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1767,
          "referenceAllele": "G",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001005741.2:c.1342G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005741.1:p.Asp448Asn",
        "hgvsWellDefined": "NP_001005741.1:p.Asp448Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007773"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1748,
          "referenceAllele": "G",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001005742.2:c.1342G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005742.1:p.Asp448Asn",
        "hgvsWellDefined": "NP_001005742.1:p.Asp448Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1584,
          "referenceAllele": "G",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001171811.1:c.1081G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165282.1:p.Asp361Asn",
        "hgvsWellDefined": "NP_001165282.1:p.Asp361Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015366"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1358,
          "referenceAllele": "G",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001171812.1:c.1195G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165283.1:p.Asp399Asn",
        "hgvsWellDefined": "NP_001165283.1:p.Asp399Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1671,
          "referenceAllele": "G",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "XM_006711270.1:c.1342G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711333.1:p.Asp448Asn",
        "hgvsWellDefined": "XP_006711333.1:p.Asp448Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1752,
          "referenceAllele": "G",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "XM_011509407.1:c.1342G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507709.1:p.Asp448Asn",
        "hgvsWellDefined": "XP_011507709.1:p.Asp448Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076675"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063874122",
      "coordinates": [
        {
          "allele": "A",
          "end": 1479,
          "referenceAllele": "G",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_000157.4:c.1342G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000148.2:p.Asp448Asn",
        "hgvsWellDefined": "NP_000148.2:p.Asp448Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662330",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368373.8:c.1342G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000157.4:c.1342G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357357.3:p.Asp448Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000148.2:p.Asp448Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1532,
          "referenceAllele": "G",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001005741.3:c.1342G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005741.1:p.Asp448Asn",
        "hgvsWellDefined": "NP_001005741.1:p.Asp448Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1513,
          "referenceAllele": "G",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001005742.3:c.1342G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005742.1:p.Asp448Asn",
        "hgvsWellDefined": "NP_001005742.1:p.Asp448Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675210"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1349,
          "referenceAllele": "G",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001171811.2:c.1081G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165282.1:p.Asp361Asn",
        "hgvsWellDefined": "NP_001165282.1:p.Asp361Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678712"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1332,
          "referenceAllele": "G",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004177",
      "geneNCBI_id": 2629,
      "geneSymbol": "GBA1",
      "hgvs": [
        "NM_001171812.2:c.1195G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165283.1:p.Asp399Asn",
        "hgvsWellDefined": "NP_001165283.1:p.Asp399Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678713"
    }
  ],
  "type": "nucleotide"
}