{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA363488711",
  "communityStandardTitle": [
    "NM_000434.4(NEU1):c.893C>G (p.Ala298Gly)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31827947G>C?assembly=hg19",
        "id": "chr6:g.31827947G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31860170G>C?assembly=hg38",
        "id": "chr6:g.31860170G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893981",
        "rs": 104893981
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31827947-G-C?dataset=gnomad_r2_1",
        "id": "6-31827947-G-C",
        "variant": "6:31827947 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31860170-G-C?dataset=gnomad_r4",
        "id": "6-31860170-G-C",
        "variant": "6:31860170 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 31860170,
          "referenceAllele": "G",
          "start": 31860169
        }
      ],
      "hgvs": [
        "NC_000006.12:g.31860170G>C",
        "CM000668.2:g.31860170G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 31827947,
          "referenceAllele": "G",
          "start": 31827946
        }
      ],
      "hgvs": [
        "NC_000006.11:g.31827947G>C",
        "CM000668.1:g.31827947G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 31935926,
          "referenceAllele": "G",
          "start": 31935925
        }
      ],
      "hgvs": [
        "NC_000006.10:g.31935926G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7763,
          "referenceAllele": "C",
          "start": 7762
        }
      ],
      "hgvs": [
        "NG_008201.1:g.7763C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000943"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 938,
          "referenceAllele": "C",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007758",
      "geneNCBI_id": 4758,
      "geneSymbol": "NEU1",
      "hgvs": [
        "ENST00000375631.5:c.893C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364782.4:p.Ala298Gly",
        "hgvsWellDefined": "ENSP00000364782.4:p.Ala298Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751643",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375631.5:c.893C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000434.4:c.893C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364782.4:p.Ala298Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000425.1:p.Ala298Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2136,
          "referenceAllele": "C",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007758",
      "geneNCBI_id": 4758,
      "geneSymbol": "NEU1",
      "hgvs": [
        "ENST00000677054.1:n.2136C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776722"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1175,
          "referenceAllele": "C",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007758",
      "geneNCBI_id": 4758,
      "geneSymbol": "NEU1",
      "hgvs": [
        "ENST00000677512.1:n.1175C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777173"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1481,
          "referenceAllele": "C",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007758",
      "geneNCBI_id": 4758,
      "geneSymbol": "NEU1",
      "hgvs": [
        "ENST00000678869.1:n.1481C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778506"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1023,
          "referenceAllele": "C",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007758",
      "geneNCBI_id": 4758,
      "geneSymbol": "NEU1",
      "hgvs": [
        "ENST00000375631.4:c.893C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364782.4:p.Ala298Gly",
        "hgvsWellDefined": "ENSP00000364782.4:p.Ala298Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1096,
          "referenceAllele": "C",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007758",
      "geneNCBI_id": 4758,
      "geneSymbol": "NEU1",
      "hgvs": [
        "ENST00000480384.1:n.1096C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320546"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007758",
      "geneNCBI_id": 4758,
      "geneSymbol": "NEU1",
      "hgvs": [
        "ENST00000491768.5:c.*3C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433127.1:n.*3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329296"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2201,
          "referenceAllele": "C",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007758",
      "geneNCBI_id": 4758,
      "geneSymbol": "NEU1",
      "hgvs": [
        "ENST00000495807.1:n.2201C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072144771",
      "coordinates": [
        {
          "allele": "G",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007758",
      "geneNCBI_id": 4758,
      "geneSymbol": "NEU1",
      "hgvs": [
        "NM_000434.3:c.893C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000425.1:p.Ala298Gly",
        "hgvsWellDefined": "NP_000425.1:p.Ala298Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006496"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072144771",
      "coordinates": [
        {
          "allele": "G",
          "end": 938,
          "referenceAllele": "C",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007758",
      "geneNCBI_id": 4758,
      "geneSymbol": "NEU1",
      "hgvs": [
        "NM_000434.4:c.893C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000425.1:p.Ala298Gly",
        "hgvsWellDefined": "NP_000425.1:p.Ala298Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674845",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375631.5:c.893C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000434.4:c.893C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364782.4:p.Ala298Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000425.1:p.Ala298Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}