{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA396792669",
  "communityStandardTitle": [
    "NM_021615.5(CHST6):c.481G>C (p.Ala161Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2748675[alleleid]",
        "alleleId": 2748675,
        "preferredName": "NM_021615.5(CHST6):c.481G>C (p.Ala161Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2581091",
        "RCV": [
          "RCV003330350"
        ],
        "variationId": 2581091
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.75513246C>G?assembly=hg19",
        "id": "chr16:g.75513246C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.75479348C>G?assembly=hg38",
        "id": "chr16:g.75479348C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1482996862",
        "rs": 1482996862
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-75479348-C-G?dataset=gnomad_r4",
        "id": "16-75479348-C-G",
        "variant": "16:75479348 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 75479348,
          "referenceAllele": "C",
          "start": 75479347
        }
      ],
      "hgvs": [
        "NC_000016.10:g.75479348C>G",
        "CM000678.2:g.75479348C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 75513246,
          "referenceAllele": "C",
          "start": 75513245
        }
      ],
      "hgvs": [
        "NC_000016.9:g.75513246C>G",
        "CM000678.1:g.75513246C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 74070747,
          "referenceAllele": "C",
          "start": 74070746
        }
      ],
      "hgvs": [
        "NC_000016.8:g.74070747C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 20681,
          "referenceAllele": "G",
          "start": 20680
        }
      ],
      "hgvs": [
        "NG_016442.1:g.20681G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003191"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 21094,
          "referenceAllele": "G",
          "start": 21093
        }
      ],
      "hgvs": [
        "NG_016442.2:g.21094G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616227"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1074,
          "referenceAllele": "G",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "ENST00000332272.9:c.481G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328983.4:p.Ala161Pro",
        "hgvsWellDefined": "ENSP00000328983.4:p.Ala161Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747218",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000332272.9:c.481G>C"
          },
          "RefSeq": {
            "hgvs": "NM_021615.5:c.481G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328983.4:p.Ala161Pro"
          },
          "RefSeq": {
            "hgvs": "NP_067628.1:p.Ala161Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1173,
          "referenceAllele": "G",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "ENST00000390664.3:c.481G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375079.2:p.Ala161Pro",
        "hgvsWellDefined": "ENSP00000375079.2:p.Ala161Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "ENST00000649341.1:c.481G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497635.1:p.Ala161Pro",
        "hgvsWellDefined": "ENSP00000497635.1:p.Ala161Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1031,
          "referenceAllele": "G",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "ENST00000649824.1:c.481G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496806.1:p.Ala161Pro",
        "hgvsWellDefined": "ENSP00000496806.1:p.Ala161Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770779"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 661,
          "referenceAllele": "G",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "ENST00000332272.8:c.481G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328983.4:p.Ala161Pro",
        "hgvsWellDefined": "ENSP00000328983.4:p.Ala161Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1173,
          "referenceAllele": "G",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "ENST00000390664.2:c.481G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375079.2:p.Ala161Pro",
        "hgvsWellDefined": "ENSP00000375079.2:p.Ala161Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741979222",
      "coordinates": [
        {
          "allele": "C",
          "end": 661,
          "referenceAllele": "G",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "NM_021615.4:c.481G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_067628.1:p.Ala161Pro",
        "hgvsWellDefined": "NP_067628.1:p.Ala161Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036977"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1223,
          "referenceAllele": "G",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "XM_005255955.3:c.481G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256012.1:p.Ala161Pro",
        "hgvsWellDefined": "XP_005256012.1:p.Ala161Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061106"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 837,
          "referenceAllele": "G",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "XM_011523085.1:c.481G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521387.1:p.Ala161Pro",
        "hgvsWellDefined": "XP_011521387.1:p.Ala161Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741979222",
      "coordinates": [
        {
          "allele": "C",
          "end": 1074,
          "referenceAllele": "G",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "NM_021615.5:c.481G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_067628.1:p.Ala161Pro",
        "hgvsWellDefined": "NP_067628.1:p.Ala161Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526053",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000332272.9:c.481G>C"
          },
          "RefSeq": {
            "hgvs": "NM_021615.5:c.481G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328983.4:p.Ala161Pro"
          },
          "RefSeq": {
            "hgvs": "NP_067628.1:p.Ala161Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1219,
          "referenceAllele": "G",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "XM_005255955.5:c.481G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256012.1:p.Ala161Pro",
        "hgvsWellDefined": "XP_005256012.1:p.Ala161Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534358"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1276,
          "referenceAllele": "G",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "XM_011523085.3:c.481G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521387.1:p.Ala161Pro",
        "hgvsWellDefined": "XP_011521387.1:p.Ala161Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546884"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 733,
          "endIntronDirection": "+",
          "endIntronOffset": 2469,
          "referenceAllele": "G",
          "start": 733,
          "startIntronDirection": "+",
          "startIntronOffset": 2468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "NR_163480.1:n.733+2469G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705571"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 577,
          "endIntronDirection": "+",
          "endIntronOffset": 2469,
          "referenceAllele": "G",
          "start": 577,
          "startIntronDirection": "+",
          "startIntronOffset": 2468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "NR_163481.1:n.577+2469G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705572"
    }
  ],
  "type": "nucleotide"
}