{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9226921",
  "communityStandardTitle": [
    "NM_000528.4(MAN2B1):c.19G>C (p.Ala7Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1501554[alleleid]",
        "alleleId": 1501554,
        "preferredName": "NM_000528.4(MAN2B1):c.19G>C (p.Ala7Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1500631",
        "RCV": [
          "RCV002042618"
        ],
        "variationId": 1500631
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-12777497-C-G",
        "id": "19-12777497-C-G",
        "variant": "19:12777497 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12777497C>G?assembly=hg19",
        "id": "chr19:g.12777497C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12666683C>G?assembly=hg38",
        "id": "chr19:g.12666683C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199673719",
        "rs": 199673719
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12777497-C-G?dataset=gnomad_r2_1",
        "id": "19-12777497-C-G",
        "variant": "19:12777497 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12666683-C-G?dataset=gnomad_r3",
        "id": "19-12666683-C-G",
        "variant": "19:12666683 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12666683-C-G?dataset=gnomad_r4",
        "id": "19-12666683-C-G",
        "variant": "19:12666683 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 12666683,
          "referenceAllele": "C",
          "start": 12666682
        }
      ],
      "hgvs": [
        "NC_000019.10:g.12666683C>G",
        "CM000681.2:g.12666683C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 12777497,
          "referenceAllele": "C",
          "start": 12777496
        }
      ],
      "hgvs": [
        "NC_000019.9:g.12777497C>G",
        "CM000681.1:g.12777497C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 12638497,
          "referenceAllele": "C",
          "start": 12638496
        }
      ],
      "hgvs": [
        "NC_000019.8:g.12638497C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5095,
          "referenceAllele": "G",
          "start": 5094
        }
      ],
      "hgvs": [
        "NG_008318.1:g.5095G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001025"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4880,
          "referenceAllele": "C",
          "start": 4879
        }
      ],
      "hgvs": [
        "NG_015814.1:g.4880C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002846"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 60,
          "referenceAllele": "G",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000456935.7:c.19G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395473.2:p.Ala7Pro",
        "hgvsWellDefined": "ENSP00000395473.2:p.Ala7Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756575",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000456935.7:c.19G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000528.4:c.19G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395473.2:p.Ala7Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000519.2:p.Ala7Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 52,
          "referenceAllele": "G",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000221363.8:c.19G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221363.4:p.Ala7Pro",
        "hgvsWellDefined": "ENSP00000221363.4:p.Ala7Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248273"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 60,
          "referenceAllele": "G",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000456935.6:c.19G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395473.2:p.Ala7Pro",
        "hgvsWellDefined": "ENSP00000395473.2:p.Ala7Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303709"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1,
          "referenceAllele": "G",
          "start": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000466794.5:n.1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310063"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 60,
          "referenceAllele": "G",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000486847.2:c.19G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470174.1:p.Ala7Pro",
        "hgvsWellDefined": "ENSP00000470174.1:p.Ala7Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS325552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 60,
          "referenceAllele": "G",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000596512.5:n.60G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395556"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 150,
          "endIntronDirection": "-",
          "endIntronOffset": 877,
          "referenceAllele": "G",
          "start": 150,
          "startIntronDirection": "-",
          "startIntronOffset": 878
        }
      ],
      "hgvs": [
        "ENST00000597961.1:c.151-878G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472710.1:n.151-878G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396190"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54,
          "referenceAllele": "G",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000598876.1:c.19G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470533.1:p.Ala7Pro",
        "hgvsWellDefined": "ENSP00000470533.1:p.Ala7Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396597"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 60,
          "referenceAllele": "G",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000600281.1:n.60G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825181614",
      "coordinates": [
        {
          "allele": "C",
          "end": 95,
          "referenceAllele": "G",
          "start": 94
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_000528.3:c.19G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000519.2:p.Ala7Pro",
        "hgvsWellDefined": "NP_000519.2:p.Ala7Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573186239",
      "coordinates": [
        {
          "allele": "C",
          "end": 95,
          "referenceAllele": "G",
          "start": 94
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_001173498.1:c.19G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166969.1:p.Ala7Pro",
        "hgvsWellDefined": "NP_001166969.1:p.Ala7Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 73,
          "referenceAllele": "G",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_005259913.1:c.19G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259970.1:p.Ala7Pro",
        "hgvsWellDefined": "XP_005259970.1:p.Ala7Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062591"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 60,
          "referenceAllele": "G",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_005259913.2:c.19G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259970.1:p.Ala7Pro",
        "hgvsWellDefined": "XP_005259970.1:p.Ala7Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535086"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44,
          "referenceAllele": "G",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_024451518.1:c.-1000G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307286.1:n.-1000G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825181614",
      "coordinates": [
        {
          "allele": "C",
          "end": 60,
          "referenceAllele": "G",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_000528.4:c.19G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000519.2:p.Ala7Pro",
        "hgvsWellDefined": "NP_000519.2:p.Ala7Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662473",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000456935.7:c.19G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000528.4:c.19G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395473.2:p.Ala7Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000519.2:p.Ala7Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573186239",
      "coordinates": [
        {
          "allele": "C",
          "end": 60,
          "referenceAllele": "G",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_001173498.2:c.19G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166969.1:p.Ala7Pro",
        "hgvsWellDefined": "NP_001166969.1:p.Ala7Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713478"
    }
  ],
  "type": "nucleotide"
}