{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9226324",
  "communityStandardTitle": [
    "NM_000528.4(MAN2B1):c.1796G>T (p.Arg599Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=273223[alleleid]",
        "alleleId": 273223,
        "preferredName": "NM_000528.4(MAN2B1):c.1796G>T (p.Arg599Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/288986",
        "RCV": [
          "RCV000263819",
          "RCV002519316"
        ],
        "variationId": 288986
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-12766542-C-A",
        "id": "19-12766542-C-A",
        "variant": "19:12766542 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12766542C>A?assembly=hg19",
        "id": "chr19:g.12766542C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12655728C>A?assembly=hg38",
        "id": "chr19:g.12655728C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/181476648",
        "rs": 181476648
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12766542-C-A?dataset=gnomad_r2_1",
        "id": "19-12766542-C-A",
        "variant": "19:12766542 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12655728-C-A?dataset=gnomad_r3",
        "id": "19-12655728-C-A",
        "variant": "19:12655728 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12655728-C-A?dataset=gnomad_r4",
        "id": "19-12655728-C-A",
        "variant": "19:12655728 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 12655728,
          "referenceAllele": "C",
          "start": 12655727
        }
      ],
      "hgvs": [
        "NC_000019.10:g.12655728C>A",
        "CM000681.2:g.12655728C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 12766542,
          "referenceAllele": "C",
          "start": 12766541
        }
      ],
      "hgvs": [
        "NC_000019.9:g.12766542C>A",
        "CM000681.1:g.12766542C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 12627542,
          "referenceAllele": "C",
          "start": 12627541
        }
      ],
      "hgvs": [
        "NC_000019.8:g.12627542C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16050,
          "referenceAllele": "G",
          "start": 16049
        }
      ],
      "hgvs": [
        "NG_008318.1:g.16050G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001025"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1837,
          "referenceAllele": "G",
          "start": 1836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000456935.7:c.1796G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395473.2:p.Arg599Ile",
        "hgvsWellDefined": "ENSP00000395473.2:p.Arg599Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756575",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000456935.7:c.1796G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000528.4:c.1796G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395473.2:p.Arg599Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000519.2:p.Arg599Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1826,
          "referenceAllele": "G",
          "start": 1825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000221363.8:c.1793G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221363.4:p.Arg598Ile",
        "hgvsWellDefined": "ENSP00000221363.4:p.Arg598Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000433513.5:n.402G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS292580"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1837,
          "referenceAllele": "G",
          "start": 1836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000456935.6:c.1796G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395473.2:p.Arg599Ile",
        "hgvsWellDefined": "ENSP00000395473.2:p.Arg599Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2386,
          "referenceAllele": "G",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000466794.5:n.2386G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000593686.1:c.389G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 393,
          "referenceAllele": "G",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000595880.5:n.393G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 160,
          "referenceAllele": "G",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000596591.1:c.160G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395589"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645436379",
      "coordinates": [
        {
          "allele": "T",
          "end": 1872,
          "referenceAllele": "G",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_000528.3:c.1796G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000519.2:p.Arg599Ile",
        "hgvsWellDefined": "NP_000519.2:p.Arg599Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826093386",
      "coordinates": [
        {
          "allele": "T",
          "end": 1869,
          "referenceAllele": "G",
          "start": 1868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_001173498.1:c.1793G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166969.1:p.Arg598Ile",
        "hgvsWellDefined": "NP_001166969.1:p.Arg598Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1853,
          "referenceAllele": "G",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_005259913.1:c.1799G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259970.1:p.Arg600Ile",
        "hgvsWellDefined": "XP_005259970.1:p.Arg600Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062591"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 854,
          "referenceAllele": "G",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_011528017.1:c.695G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526319.1:p.Arg232Ile",
        "hgvsWellDefined": "XP_011526319.1:p.Arg232Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1840,
          "referenceAllele": "G",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_005259913.2:c.1799G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259970.1:p.Arg600Ile",
        "hgvsWellDefined": "XP_005259970.1:p.Arg600Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1738,
          "referenceAllele": "G",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_024451518.1:c.695G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307286.1:p.Arg232Ile",
        "hgvsWellDefined": "XP_024307286.1:p.Arg232Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645436379",
      "coordinates": [
        {
          "allele": "T",
          "end": 1837,
          "referenceAllele": "G",
          "start": 1836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_000528.4:c.1796G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000519.2:p.Arg599Ile",
        "hgvsWellDefined": "NP_000519.2:p.Arg599Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662473",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000456935.7:c.1796G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000528.4:c.1796G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395473.2:p.Arg599Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000519.2:p.Arg599Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826093386",
      "coordinates": [
        {
          "allele": "T",
          "end": 1834,
          "referenceAllele": "G",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_001173498.2:c.1793G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166969.1:p.Arg598Ile",
        "hgvsWellDefined": "NP_001166969.1:p.Arg598Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713478"
    }
  ],
  "type": "nucleotide"
}