{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA280933",
  "communityStandardTitle": [
    "NM_006895.3(HNMT):c.179G>A (p.Gly60Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=216927[alleleid]",
        "alleleId": 216927,
        "preferredName": "NM_006895.3(HNMT):c.179G>A (p.Gly60Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/219125",
        "RCV": [
          "RCV000203518"
        ],
        "variationId": 219125
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-138727776-G-A",
        "id": "2-138727776-G-A",
        "variant": "2:138727776 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.138727776G>A?assembly=hg19",
        "id": "chr2:g.138727776G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.137970206G>A?assembly=hg38",
        "id": "chr2:g.137970206G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/758252808",
        "rs": 758252808
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-138727776-G-A?dataset=gnomad_r2_1",
        "id": "2-138727776-G-A",
        "variant": "2:138727776 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-137970206-G-A?dataset=gnomad_r4",
        "id": "2-137970206-G-A",
        "variant": "2:137970206 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 137970206,
          "referenceAllele": "G",
          "start": 137970205
        }
      ],
      "hgvs": [
        "NC_000002.12:g.137970206G>A",
        "CM000664.2:g.137970206G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 138727776,
          "referenceAllele": "G",
          "start": 138727775
        }
      ],
      "hgvs": [
        "NC_000002.11:g.138727776G>A",
        "CM000664.1:g.138727776G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 138444246,
          "referenceAllele": "G",
          "start": 138444245
        }
      ],
      "hgvs": [
        "NC_000002.10:g.138444246G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10969,
          "referenceAllele": "G",
          "start": 10968
        }
      ],
      "hgvs": [
        "NG_012966.1:g.10969G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002636"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 198,
          "referenceAllele": "G",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "ENST00000280097.5:c.179G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280097.3:p.Gly60Asp",
        "hgvsWellDefined": "ENSP00000280097.3:p.Gly60Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743550",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280097.5:c.179G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006895.3:c.179G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280097.3:p.Gly60Asp"
          },
          "RefSeq": {
            "hgvs": "NP_008826.1:p.Gly60Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 361,
          "referenceAllele": "G",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "ENST00000280097.4:c.179G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280097.3:p.Gly60Asp",
        "hgvsWellDefined": "ENSP00000280097.3:p.Gly60Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 361,
          "referenceAllele": "G",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "ENST00000329366.8:c.179G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333259.4:p.Gly60Asp",
        "hgvsWellDefined": "ENSP00000333259.4:p.Gly60Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259073"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 327,
          "referenceAllele": "G",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "ENST00000410115.5:c.179G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386940.1:p.Gly60Asp",
        "hgvsWellDefined": "ENSP00000386940.1:p.Gly60Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 191,
          "referenceAllele": "G",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "ENST00000467390.5:n.191G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 613,
          "referenceAllele": "G",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "ENST00000475675.5:c.*444G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419415.1:n.*444G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 157,
          "referenceAllele": "G",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "ENST00000480534.1:n.157G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320659"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 122,
          "endIntronDirection": "+",
          "endIntronOffset": 5578,
          "referenceAllele": "G",
          "start": 122,
          "startIntronDirection": "+",
          "startIntronOffset": 5577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "ENST00000485653.1:n.122+5578G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825332357",
      "coordinates": [
        {
          "allele": "A",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "NM_001024075.1:c.179G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019246.1:p.Gly60Asp",
        "hgvsWellDefined": "NP_001019246.1:p.Gly60Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA083052",
      "coordinates": [
        {
          "allele": "A",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "NM_006895.2:c.179G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008826.1:p.Gly60Asp",
        "hgvsWellDefined": "NP_008826.1:p.Gly60Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 242,
          "referenceAllele": "G",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "XM_011511063.1:c.77G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509365.1:p.Gly26Asp",
        "hgvsWellDefined": "XP_011509365.1:p.Gly26Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078324"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 83,
          "endIntronDirection": "+",
          "endIntronOffset": 5578,
          "referenceAllele": "G",
          "start": 83,
          "startIntronDirection": "+",
          "startIntronOffset": 5577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "XM_011511064.1:c.-189+5578G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509366.1:n.-189+5578G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078325"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 207,
          "endIntronDirection": "+",
          "endIntronOffset": 5578,
          "referenceAllele": "G",
          "start": 207,
          "startIntronDirection": "+",
          "startIntronOffset": 5577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "XM_011511064.2:c.-189+5578G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509366.1:n.-189+5578G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 893,
          "referenceAllele": "G",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "XM_017003948.1:c.77G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859437.1:p.Gly26Asp",
        "hgvsWellDefined": "XP_016859437.1:p.Gly26Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559561"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 265,
          "referenceAllele": "G",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "XM_017003949.2:c.179G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859438.1:p.Gly60Asp",
        "hgvsWellDefined": "XP_016859438.1:p.Gly60Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 566,
          "referenceAllele": "G",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "XR_002959286.1:n.566G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA083052",
      "coordinates": [
        {
          "allele": "A",
          "end": 198,
          "referenceAllele": "G",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "NM_006895.3:c.179G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008826.1:p.Gly60Asp",
        "hgvsWellDefined": "NP_008826.1:p.Gly60Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280097.5:c.179G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006895.3:c.179G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280097.3:p.Gly60Asp"
          },
          "RefSeq": {
            "hgvs": "NP_008826.1:p.Gly60Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825332357",
      "coordinates": [
        {
          "allele": "A",
          "end": 198,
          "referenceAllele": "G",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "NM_001024075.2:c.179G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019246.1:p.Gly60Asp",
        "hgvsWellDefined": "NP_001019246.1:p.Gly60Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825332357",
      "coordinates": [
        {
          "allele": "A",
          "end": 198,
          "referenceAllele": "G",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "NM_001024075.3:c.179G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019246.1:p.Gly60Asp",
        "hgvsWellDefined": "NP_001019246.1:p.Gly60Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711429"
    }
  ],
  "type": "nucleotide"
}