{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA404250705",
  "communityStandardTitle": [
    "NM_000528.4(MAN2B1):c.928A>T (p.Asn310Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1858979[alleleid]",
        "alleleId": 1858979,
        "preferredName": "NM_000528.4(MAN2B1):c.928A>T (p.Asn310Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1801787",
        "RCV": [
          "RCV002463944"
        ],
        "variationId": 1801787
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12772172T>A?assembly=hg19",
        "id": "chr19:g.12772172T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12661358T>A?assembly=hg38",
        "id": "chr19:g.12661358T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2512508260",
        "rs": 2512508260
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 12661358,
          "referenceAllele": "T",
          "start": 12661357
        }
      ],
      "hgvs": [
        "NC_000019.10:g.12661358T>A",
        "CM000681.2:g.12661358T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 12772172,
          "referenceAllele": "T",
          "start": 12772171
        }
      ],
      "hgvs": [
        "NC_000019.9:g.12772172T>A",
        "CM000681.1:g.12772172T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 12633172,
          "referenceAllele": "T",
          "start": 12633171
        }
      ],
      "hgvs": [
        "NC_000019.8:g.12633172T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10420,
          "referenceAllele": "A",
          "start": 10419
        }
      ],
      "hgvs": [
        "NG_008318.1:g.10420A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001025"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 969,
          "referenceAllele": "A",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000456935.7:c.928A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395473.2:p.Asn310Tyr",
        "hgvsWellDefined": "ENSP00000395473.2:p.Asn310Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756575",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000456935.7:c.928A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000528.4:c.928A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395473.2:p.Asn310Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000519.2:p.Asn310Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 961,
          "referenceAllele": "A",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000221363.8:c.928A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221363.4:p.Asn310Tyr",
        "hgvsWellDefined": "ENSP00000221363.4:p.Asn310Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 969,
          "referenceAllele": "A",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000456935.6:c.928A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395473.2:p.Asn310Tyr",
        "hgvsWellDefined": "ENSP00000395473.2:p.Asn310Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 121,
          "referenceAllele": "A",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000462144.1:n.121A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 910,
          "referenceAllele": "A",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000466794.5:n.910A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310063"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825182192",
      "coordinates": [
        {
          "allele": "T",
          "end": 1004,
          "referenceAllele": "A",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_000528.3:c.928A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000519.2:p.Asn310Tyr",
        "hgvsWellDefined": "NP_000519.2:p.Asn310Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580158151",
      "coordinates": [
        {
          "allele": "T",
          "end": 1004,
          "referenceAllele": "A",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_001173498.1:c.928A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166969.1:p.Asn310Tyr",
        "hgvsWellDefined": "NP_001166969.1:p.Asn310Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 982,
          "referenceAllele": "A",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_005259913.1:c.928A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259970.1:p.Asn310Tyr",
        "hgvsWellDefined": "XP_005259970.1:p.Asn310Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062591"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 69,
          "referenceAllele": "A",
          "start": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_011528017.1:c.-91A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526319.1:n.-91A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 969,
          "referenceAllele": "A",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_005259913.2:c.928A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259970.1:p.Asn310Tyr",
        "hgvsWellDefined": "XP_005259970.1:p.Asn310Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 953,
          "referenceAllele": "A",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_024451518.1:c.-91A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307286.1:n.-91A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825182192",
      "coordinates": [
        {
          "allele": "T",
          "end": 969,
          "referenceAllele": "A",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_000528.4:c.928A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000519.2:p.Asn310Tyr",
        "hgvsWellDefined": "NP_000519.2:p.Asn310Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662473",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000456935.7:c.928A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000528.4:c.928A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395473.2:p.Asn310Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000519.2:p.Asn310Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580158151",
      "coordinates": [
        {
          "allele": "T",
          "end": 969,
          "referenceAllele": "A",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_001173498.2:c.928A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166969.1:p.Asn310Tyr",
        "hgvsWellDefined": "NP_001166969.1:p.Asn310Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713478"
    }
  ],
  "type": "nucleotide"
}