{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA312777",
  "communityStandardTitle": [
    "NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200124[alleleid]",
        "alleleId": 200124,
        "preferredName": "NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/203854",
        "RCV": [
          "RCV000186054",
          "RCV000585983",
          "RCV000203406",
          "RCV001271719",
          "RCV001814093"
        ],
        "variationId": 203854
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-49425585-G-T",
        "id": "6-49425585-G-T",
        "variant": "6:49425585 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.49425585G>T?assembly=hg19",
        "id": "chr6:g.49425585G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.49457872G>T?assembly=hg38",
        "id": "chr6:g.49457872G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/760782399",
        "rs": 760782399
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-49425585-G-T?dataset=gnomad_r2_1",
        "id": "6-49425585-G-T",
        "variant": "6:49425585 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-49457872-G-T?dataset=gnomad_r3",
        "id": "6-49457872-G-T",
        "variant": "6:49457872 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-49457872-G-T?dataset=gnomad_r4",
        "id": "6-49457872-G-T",
        "variant": "6:49457872 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 49457872,
          "referenceAllele": "G",
          "start": 49457871
        }
      ],
      "hgvs": [
        "NC_000006.12:g.49457872G>T",
        "CM000668.2:g.49457872G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 49425585,
          "referenceAllele": "G",
          "start": 49425584
        }
      ],
      "hgvs": [
        "NC_000006.11:g.49425585G>T",
        "CM000668.1:g.49425585G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 49533544,
          "referenceAllele": "G",
          "start": 49533543
        }
      ],
      "hgvs": [
        "NC_000006.10:g.49533544G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10268,
          "referenceAllele": "C",
          "start": 10267
        }
      ],
      "hgvs": [
        "NG_007100.1:g.10268C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000481"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 762,
          "referenceAllele": "C",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "ENST00000274813.4:c.572C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274813.3:p.Ala191Glu",
        "hgvsWellDefined": "ENSP00000274813.3:p.Ala191Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743375",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000274813.4:c.572C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000255.4:c.572C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000274813.3:p.Ala191Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000246.2:p.Ala191Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 700,
          "referenceAllele": "C",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "ENST00000274813.3:c.572C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274813.3:p.Ala191Glu",
        "hgvsWellDefined": "ENSP00000274813.3:p.Ala191Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252580"
    },
    {
      "@id": "http://reg.genome.network/allele/PA095843",
      "coordinates": [
        {
          "allele": "A",
          "end": 837,
          "referenceAllele": "C",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "NM_000255.3:c.572C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000246.2:p.Ala191Glu",
        "hgvsWellDefined": "NP_000246.2:p.Ala191Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 742,
          "referenceAllele": "C",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "XM_005249143.2:c.572C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249200.1:p.Ala191Glu",
        "hgvsWellDefined": "XP_005249200.1:p.Ala191Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 742,
          "referenceAllele": "C",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "XM_005249143.3:c.572C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249200.1:p.Ala191Glu",
        "hgvsWellDefined": "XP_005249200.1:p.Ala191Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA095843",
      "coordinates": [
        {
          "allele": "A",
          "end": 762,
          "referenceAllele": "C",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007526",
      "geneNCBI_id": 4594,
      "geneSymbol": "MMUT",
      "hgvs": [
        "NM_000255.4:c.572C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000246.2:p.Ala191Glu",
        "hgvsWellDefined": "NP_000246.2:p.Ala191Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662371",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000274813.4:c.572C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000255.4:c.572C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000274813.3:p.Ala191Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000246.2:p.Ala191Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}