{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA123701", "communityStandardTitle": [ "NM_000345.4(SNCA):c.136G>A (p.Glu46Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29049[alleleid]", "alleleId": 29049, "preferredName": "NM_000345.4(SNCA):c.136G>A (p.Glu46Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14010", "RCV": [ "RCV000015047", "RCV002514100" ], "variationId": 14010 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.90749321C>T?assembly=hg19", "id": "chr4:g.90749321C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.89828170C>T?assembly=hg38", "id": "chr4:g.89828170C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/104893875", "rs": 104893875 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 89828170, "referenceAllele": "C", "start": 89828169 } ], "hgvs": [ "NC_000004.12:g.89828170C>T", "CM000666.2:g.89828170C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 90749321, "referenceAllele": "C", "start": 90749320 } ], "hgvs": [ "NC_000004.11:g.90749321C>T", "CM000666.1:g.90749321C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 90968344, "referenceAllele": "C", "start": 90968343 } ], "hgvs": [ "NC_000004.10:g.90968344C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 15127, "referenceAllele": "G", "start": 15126 } ], "hgvs": [ "NG_011851.1:g.15127G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002029" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 361, "referenceAllele": "G", "start": 360 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "ENST00000394991.8:c.136G>A" ], "proteinEffect": { "hgvs": "ENSP00000378442.4:p.Glu46Lys", "hgvsWellDefined": "ENSP00000378442.4:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS753343", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394991.8:c.136G>A" }, "RefSeq": { "hgvs": "NM_000345.4:c.136G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378442.4:p.Glu46Lys" }, "RefSeq": { "hgvs": "NP_000336.1:p.Glu46Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 331, "referenceAllele": "G", "start": 330 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "ENST00000673718.1:c.136G>A" ], "proteinEffect": { "hgvs": "ENSP00000500990.1:p.Glu46Lys", "hgvsWellDefined": "ENSP00000500990.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS773813" }, { "coordinates": [ { "allele": "A", "end": 510, "referenceAllele": "G", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "ENST00000673902.1:c.136G>A" ], "proteinEffect": { "hgvs": "ENSP00000501102.1:p.Glu46Lys", "hgvsWellDefined": "ENSP00000501102.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS773958" }, { "coordinates": [ { "allele": "A", "end": 510, "referenceAllele": "G", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "ENST00000674129.1:c.136G>A" ], "proteinEffect": { "hgvs": "ENSP00000501269.1:p.Glu46Lys", "hgvsWellDefined": "ENSP00000501269.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS774148" }, { "coordinates": [ { "allele": "A", "end": 225, "referenceAllele": "G", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "ENST00000336904.7:c.136G>A" ], "proteinEffect": { "hgvs": "ENSP00000338345.3:p.Glu46Lys", "hgvsWellDefined": "ENSP00000338345.3:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS260387" }, { "coordinates": [ { "allele": "A", "end": 149, "referenceAllele": "G", "start": 148 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "ENST00000345009.8:c.136G>A" ], "proteinEffect": { "hgvs": "ENSP00000343683.4:p.Glu46Lys", "hgvsWellDefined": "ENSP00000343683.4:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS262113" }, { "coordinates": [ { "allele": "A", "end": 558, "referenceAllele": "G", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "ENST00000394986.5:c.136G>A" ], "proteinEffect": { "hgvs": "ENSP00000378437.1:p.Glu46Lys", "hgvsWellDefined": "ENSP00000378437.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS276458" }, { "coordinates": [ { "allele": "A", "end": 384, "endIntronDirection": "-", "endIntronOffset": 5781, "referenceAllele": "G", "start": 384, "startIntronDirection": "-", "startIntronOffset": 5782 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "ENST00000394989.6:c.122-5782G>A" ], "proteinEffect": { "hgvs": "ENSP00000378440.2:n.122-5782G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS276460" }, { "coordinates": [ { "allele": "A", "end": 428, "referenceAllele": "G", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "ENST00000394991.7:c.136G>A" ], "proteinEffect": { "hgvs": "ENSP00000378442.3:p.Glu46Lys", "hgvsWellDefined": "ENSP00000378442.3:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS276462" }, { "coordinates": [ { "allele": "A", "end": 395, "referenceAllele": "G", "start": 394 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "ENST00000420646.6:c.136G>A" ], "proteinEffect": { "hgvs": "ENSP00000396241.2:p.Glu46Lys", "hgvsWellDefined": "ENSP00000396241.2:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS286415" }, { "coordinates": [ { "allele": "A", "end": 164, "referenceAllele": "G", "start": 163 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "ENST00000502987.5:c.136G>A" ], "proteinEffect": { "hgvs": "ENSP00000426034.1:p.Glu46Lys", "hgvsWellDefined": "ENSP00000426034.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS335416" }, { "coordinates": [ { "allele": "A", "end": 139, "endIntronDirection": "-", "endIntronOffset": 5781, "referenceAllele": "G", "start": 139, "startIntronDirection": "-", "startIntronOffset": 5782 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "ENST00000505199.5:c.122-5782G>A" ], "proteinEffect": { "hgvs": "ENSP00000421485.1:n.122-5782G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS337049" }, { "coordinates": [ { "allele": "A", "end": 232, "referenceAllele": "G", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "ENST00000506244.5:c.136G>A" ], "proteinEffect": { "hgvs": "ENSP00000422238.1:p.Glu46Lys", "hgvsWellDefined": "ENSP00000422238.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS337832" }, { "coordinates": [ { "allele": "A", "end": 323, "referenceAllele": "G", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "ENST00000506691.1:c.136G>A" ], "proteinEffect": { "hgvs": "ENSP00000423445.1:p.Glu46Lys", "hgvsWellDefined": "ENSP00000423445.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS338177" }, { "coordinates": [ { "allele": "A", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "ENST00000508895.5:c.136G>A" ], "proteinEffect": { "hgvs": "ENSP00000426955.1:p.Glu46Lys", "hgvsWellDefined": "ENSP00000426955.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS339803" }, { "coordinates": [ { "allele": "A", "end": 121, "endIntronDirection": "-", "endIntronOffset": 5781, "referenceAllele": "G", "start": 121, "startIntronDirection": "-", "startIntronOffset": 5782 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "ENST00000611107.1:c.122-5782G>A" ], "proteinEffect": { "hgvs": "ENSP00000479604.1:n.122-5782G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS400698" }, { "coordinates": [ { "allele": "A", "end": 233, "endIntronDirection": "-", "endIntronOffset": 5781, "referenceAllele": "G", "start": 233, "startIntronDirection": "-", "startIntronOffset": 5782 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "ENST00000618500.4:c.122-5782G>A" ], "proteinEffect": { "hgvs": "ENSP00000484044.1:n.122-5782G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS403959" }, { "@id": "http://reg.genome.network/allele/PA094724", "coordinates": [ { "allele": "A", "end": 399, "referenceAllele": "G", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "NM_000345.3:c.136G>A" ], "proteinEffect": { "hgvs": "NP_000336.1:p.Glu46Lys", "hgvsWellDefined": "NP_000336.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006408" }, { "@id": "http://reg.genome.network/allele/PA2825924353", "coordinates": [ { "allele": "A", "end": 395, "referenceAllele": "G", "start": 394 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "NM_001146054.1:c.136G>A" ], "proteinEffect": { "hgvs": "NP_001139526.1:p.Glu46Lys", "hgvsWellDefined": "NP_001139526.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS013842" }, { "@id": "http://reg.genome.network/allele/PA2825924401", "coordinates": [ { "allele": "A", "end": 206, "referenceAllele": "G", "start": 205 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "NM_001146055.1:c.136G>A" ], "proteinEffect": { "hgvs": "NP_001139527.1:p.Glu46Lys", "hgvsWellDefined": "NP_001139527.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS013843" }, { "@id": "http://reg.genome.network/allele/PA916000688", "coordinates": [ { "allele": "A", "end": 395, "referenceAllele": "G", "start": 394 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "NM_007308.2:c.136G>A" ], "proteinEffect": { "hgvs": "NP_009292.1:p.Glu46Lys", "hgvsWellDefined": "NP_009292.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS032217" }, { "coordinates": [ { "allele": "A", "end": 428, "referenceAllele": "G", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "XM_011532203.1:c.136G>A" ], "proteinEffect": { "hgvs": "XP_011530505.1:p.Glu46Lys", "hgvsWellDefined": "XP_011530505.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS099231" }, { "coordinates": [ { "allele": "A", "end": 407, "referenceAllele": "G", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "XM_011532204.1:c.136G>A" ], "proteinEffect": { "hgvs": "XP_011530506.1:p.Glu46Lys", "hgvsWellDefined": "XP_011530506.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS099232" }, { "coordinates": [ { "allele": "A", "end": 224, "referenceAllele": "G", "start": 223 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "XM_011532205.1:c.136G>A" ], "proteinEffect": { "hgvs": "XP_011530507.1:p.Glu46Lys", "hgvsWellDefined": "XP_011530507.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS099233" }, { "coordinates": [ { "allele": "A", "end": 256, "referenceAllele": "G", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "XM_011532206.1:c.136G>A" ], "proteinEffect": { "hgvs": "XP_011530508.1:p.Glu46Lys", "hgvsWellDefined": "XP_011530508.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS099234" }, { "coordinates": [ { "allele": "A", "end": 243, "referenceAllele": "G", "start": 242 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "XM_011532207.1:c.136G>A" ], "proteinEffect": { "hgvs": "XP_011530509.1:p.Glu46Lys", "hgvsWellDefined": "XP_011530509.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS099235" }, { "coordinates": [ { "allele": "A", "end": 256, "referenceAllele": "G", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "XM_011532208.1:c.136G>A" ], "proteinEffect": { "hgvs": "XP_011530510.1:p.Glu46Lys", "hgvsWellDefined": "XP_011530510.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS099236" }, { "coordinates": [ { "allele": "A", "end": 407, "referenceAllele": "G", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "XM_011532204.3:c.136G>A" ], "proteinEffect": { "hgvs": "XP_011530506.1:p.Glu46Lys", "hgvsWellDefined": "XP_011530506.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS550730" }, { "coordinates": [ { "allele": "A", "end": 234, "referenceAllele": "G", "start": 233 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "XM_011532205.2:c.136G>A" ], "proteinEffect": { "hgvs": "XP_011530507.1:p.Glu46Lys", "hgvsWellDefined": "XP_011530507.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS550731" }, { "coordinates": [ { "allele": "A", "end": 276, "referenceAllele": "G", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "XM_011532208.2:c.136G>A" ], "proteinEffect": { "hgvs": "XP_011530510.1:p.Glu46Lys", "hgvsWellDefined": "XP_011530510.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS550732" }, { "coordinates": [ { "allele": "A", "end": 270, "referenceAllele": "G", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "XM_017008562.1:c.136G>A" ], "proteinEffect": { "hgvs": "XP_016864051.1:p.Glu46Lys", "hgvsWellDefined": "XP_016864051.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS563046" }, { "coordinates": [ { "allele": "A", "end": 296, "referenceAllele": "G", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "XM_017008563.1:c.136G>A" ], "proteinEffect": { "hgvs": "XP_016864052.1:p.Glu46Lys", "hgvsWellDefined": "XP_016864052.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS563047" }, { "@id": "http://reg.genome.network/allele/PA094724", "coordinates": [ { "allele": "A", "end": 361, "referenceAllele": "G", "start": 360 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "NM_000345.4:c.136G>A" ], "proteinEffect": { "hgvs": "NP_000336.1:p.Glu46Lys", "hgvsWellDefined": "NP_000336.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS674800", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394991.8:c.136G>A" }, "RefSeq": { "hgvs": "NM_000345.4:c.136G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378442.4:p.Glu46Lys" }, "RefSeq": { "hgvs": "NP_000336.1:p.Glu46Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2825924353", "coordinates": [ { "allele": "A", "end": 580, "referenceAllele": "G", "start": 579 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "NM_001146054.2:c.136G>A" ], "proteinEffect": { "hgvs": "NP_001139526.1:p.Glu46Lys", "hgvsWellDefined": "NP_001139526.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS677977" }, { "@id": "http://reg.genome.network/allele/PA2825924401", "coordinates": [ { "allele": "A", "end": 214, "referenceAllele": "G", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "NM_001146055.2:c.136G>A" ], "proteinEffect": { "hgvs": "NP_001139527.1:p.Glu46Lys", "hgvsWellDefined": "NP_001139527.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS677978" }, { "@id": "http://reg.genome.network/allele/PA2828569453", "coordinates": [ { "allele": "A", "end": 283, "referenceAllele": "G", "start": 282 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "NM_001375285.1:c.136G>A" ], "proteinEffect": { "hgvs": "NP_001362214.1:p.Glu46Lys", "hgvsWellDefined": "NP_001362214.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS693446" }, { "@id": "http://reg.genome.network/allele/PA2828569502", "coordinates": [ { "allele": "A", "end": 225, "referenceAllele": "G", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "NM_001375286.1:c.136G>A" ], "proteinEffect": { "hgvs": "NP_001362215.1:p.Glu46Lys", "hgvsWellDefined": "NP_001362215.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS693447" }, { "@id": "http://reg.genome.network/allele/PA2828569551", "coordinates": [ { "allele": "A", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "NM_001375287.1:c.136G>A" ], "proteinEffect": { "hgvs": "NP_001362216.1:p.Glu46Lys", "hgvsWellDefined": "NP_001362216.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS693448" }, { "@id": "http://reg.genome.network/allele/PA2828569600", "coordinates": [ { "allele": "A", "end": 275, "referenceAllele": "G", "start": 274 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "NM_001375288.1:c.136G>A" ], "proteinEffect": { "hgvs": "NP_001362217.1:p.Glu46Lys", "hgvsWellDefined": "NP_001362217.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS693449" }, { "coordinates": [ { "allele": "A", "end": 214, "referenceAllele": "G", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "NR_164674.1:n.214G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705768" }, { "coordinates": [ { "allele": "A", "end": 361, "referenceAllele": "G", "start": 360 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "NR_164675.1:n.361G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705769" }, { "coordinates": [ { "allele": "A", "end": 434, "referenceAllele": "G", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "NR_164676.1:n.434G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705770" }, { "@id": "http://reg.genome.network/allele/PA916000688", "coordinates": [ { "allele": "A", "end": 580, "referenceAllele": "G", "start": 579 } ], "gene": "http://reg.genome.network/gene/GN011138", "geneNCBI_id": 6622, "geneSymbol": "SNCA", "hgvs": [ "NM_007308.3:c.136G>A" ], "proteinEffect": { "hgvs": "NP_009292.1:p.Glu46Lys", "hgvsWellDefined": "NP_009292.1:p.Glu46Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS727827" } ], "type": "nucleotide" }