{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8291548", "communityStandardTitle": [ "NM_004937.3(CTNS):c.80C>A (p.Thr27Asn)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1570833[alleleid]", "alleleId": 1570833, "preferredName": "NM_004937.3(CTNS):c.80C>A (p.Thr27Asn)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1597694", "RCV": [ "RCV003007140" ], "variationId": 1597694 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-3550756-C-A", "id": "17-3550756-C-A", "variant": "17:3550756 C / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.3550756C>A?assembly=hg19", "id": "chr17:g.3550756C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.3647462C>A?assembly=hg38", "id": "chr17:g.3647462C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/576315457", "rs": 576315457 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-3550756-C-A?dataset=gnomad_r2_1", "id": "17-3550756-C-A", "variant": "17:3550756 C / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-3647462-C-A?dataset=gnomad_r3", "id": "17-3647462-C-A", "variant": "17:3647462 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-3647462-C-A?dataset=gnomad_r4", "id": "17-3647462-C-A", "variant": "17:3647462 C / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 3647462, "referenceAllele": "C", "start": 3647461 } ], "hgvs": [ "NC_000017.11:g.3647462C>A", "CM000679.2:g.3647462C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 3550756, "referenceAllele": "C", "start": 3550755 } ], "hgvs": [ "NC_000017.10:g.3550756C>A", "CM000679.1:g.3550756C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 3497505, "referenceAllele": "C", "start": 3497504 } ], "hgvs": [ "NC_000017.9:g.3497505C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 15995, "referenceAllele": "C", "start": 15994 } ], "hgvs": [ "NG_012489.1:g.15995C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002417" }, { "coordinates": [ { "allele": "A", "end": 15995, "referenceAllele": "C", "start": 15994 } ], "hgvs": [ "NG_012489.2:g.15995C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673597" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 381, "referenceAllele": "C", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "ENST00000046640.9:c.80C>A" ], "proteinEffect": { "hgvs": "ENSP00000046640.4:p.Thr27Asn", "hgvsWellDefined": "ENSP00000046640.4:p.Thr27Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS739992", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000046640.9:c.80C>A" }, "RefSeq": { "hgvs": "NM_004937.3:c.80C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000046640.4:p.Thr27Asn" }, "RefSeq": { "hgvs": "NP_004928.2:p.Thr27Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 559, "referenceAllele": "C", "start": 558 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "ENST00000381870.8:c.80C>A" ], "proteinEffect": { "hgvs": "ENSP00000371294.3:p.Thr27Asn", "hgvsWellDefined": "ENSP00000371294.3:p.Thr27Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS752588" }, { "coordinates": [ { "allele": "A", "end": 312, "referenceAllele": "C", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "ENST00000399306.7:c.80C>A" ], "proteinEffect": { "hgvs": "ENSP00000382245.2:p.Thr27Asn", "hgvsWellDefined": "ENSP00000382245.2:p.Thr27Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS753831" }, { "coordinates": [ { "allele": "A", "end": 322, "referenceAllele": "C", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "ENST00000488623.6:c.-648C>A" ], "proteinEffect": { "hgvs": "ENSP00000501016.1:n.-648C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS757597" }, { "coordinates": [ { "allele": "A", "end": 393, "endIntronDirection": "+", "endIntronOffset": 7195, "referenceAllele": "C", "start": 393, "startIntronDirection": "+", "startIntronOffset": 7194 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "ENST00000574776.6:c.-113+7195C>A" ], "proteinEffect": { "hgvs": "ENSP00000461118.2:n.-113+7195C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS760747" }, { "coordinates": [ { "allele": "A", "end": 335, "referenceAllele": "C", "start": 334 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "ENST00000673669.1:c.-277C>A" ], "proteinEffect": { "hgvs": "ENSP00000501123.1:n.-277C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773771" }, { "coordinates": [ { "allele": "A", "end": 554, "referenceAllele": "C", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "ENST00000673965.1:c.80C>A" ], "proteinEffect": { "hgvs": "ENSP00000500995.1:p.Thr27Asn", "hgvsWellDefined": "ENSP00000500995.1:p.Thr27Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS774008" }, { "coordinates": [ { "allele": "A", "end": 673, "referenceAllele": "C", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "ENST00000046640.7:c.80C>A" ], "proteinEffect": { "hgvs": "ENSP00000046640.3:p.Thr27Asn", "hgvsWellDefined": "ENSP00000046640.3:p.Thr27Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS247553" }, { "coordinates": [ { "allele": "A", "end": 539, "referenceAllele": "C", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "ENST00000381870.7:c.80C>A" ], "proteinEffect": { "hgvs": "ENSP00000371294.3:p.Thr27Asn", "hgvsWellDefined": "ENSP00000371294.3:p.Thr27Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS273532" }, { "coordinates": [ { "allele": "A", "end": 312, "referenceAllele": "C", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "ENST00000399306.6:c.80C>A" ], "proteinEffect": { "hgvs": "ENSP00000382245.2:p.Thr27Asn", "hgvsWellDefined": "ENSP00000382245.2:p.Thr27Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS278633" }, { "coordinates": [ { "allele": "A", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "ENST00000452111.5:c.80C>A" ], "proteinEffect": { "hgvs": "ENSP00000408652.1:p.Thr27Asn", "hgvsWellDefined": "ENSP00000408652.1:p.Thr27Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS301476" }, { "coordinates": [ { "allele": "A", "end": 383, "referenceAllele": "C", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "ENST00000467663.5:c.80C>A" ], "proteinEffect": { "hgvs": "ENSP00000461056.1:p.Thr27Asn", "hgvsWellDefined": "ENSP00000461056.1:p.Thr27Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS310759" }, { "coordinates": [ { "allele": "A", "end": 301, "referenceAllele": "C", "start": 300 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "ENST00000488623.5:n.301C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS326877" }, { "coordinates": [ { "allele": "A", "end": 394, "referenceAllele": "C", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "ENST00000495445.5:n.394C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS332144" }, { "coordinates": [ { "allele": "A", "end": 280, "endIntronDirection": "-", "endIntronOffset": 7535, "referenceAllele": "C", "start": 280, "startIntronDirection": "-", "startIntronOffset": 7536 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "ENST00000574218.1:c.-216-7536C>A" ], "proteinEffect": { "hgvs": "ENSP00000458912.1:n.-216-7536C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS383595" }, { "coordinates": [ { "allele": "A", "end": 393, "endIntronDirection": "+", "endIntronOffset": 7195, "referenceAllele": "C", "start": 393, "startIntronDirection": "+", "startIntronOffset": 7194 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "ENST00000574776.5:c.-113+7195C>A" ], "proteinEffect": { "hgvs": "ENSP00000461118.1:n.-113+7195C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS383825" }, { "coordinates": [ { "allele": "A", "end": 140, "referenceAllele": "C", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "ENST00000576979.1:c.80C>A" ], "proteinEffect": { "hgvs": "ENSP00000458457.1:p.Thr27Asn", "hgvsWellDefined": "ENSP00000458457.1:p.Thr27Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS384674" }, { "@id": "http://reg.genome.network/allele/PA2825347693", "coordinates": [ { "allele": "A", "end": 550, "referenceAllele": "C", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_001031681.2:c.80C>A" ], "proteinEffect": { "hgvs": "NP_001026851.2:p.Thr27Asn", "hgvsWellDefined": "NP_001026851.2:p.Thr27Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS008984" }, { "@id": "http://reg.genome.network/allele/PA2573241245", "coordinates": [ { "allele": "A", "end": 673, "referenceAllele": "C", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_004937.2:c.80C>A" ], "proteinEffect": { "hgvs": "NP_004928.2:p.Thr27Asn", "hgvsWellDefined": "NP_004928.2:p.Thr27Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS030071" }, { "coordinates": [ { "allele": "A", "end": 673, "referenceAllele": "C", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_005256485.1:c.80C>A" ], "proteinEffect": { "hgvs": "XP_005256542.1:p.Thr27Asn", "hgvsWellDefined": "XP_005256542.1:p.Thr27Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS061334" }, { "coordinates": [ { "allele": "A", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_006721463.1:c.80C>A" ], "proteinEffect": { "hgvs": "XP_006721526.1:p.Thr27Asn", "hgvsWellDefined": "XP_006721526.1:p.Thr27Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS074084" }, { "coordinates": [ { "allele": "A", "end": 673, "referenceAllele": "C", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_006721464.1:c.-277C>A" ], "proteinEffect": { "hgvs": "XP_006721527.1:n.-277C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS074085" }, { "coordinates": [ { "allele": "A", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_011523691.1:c.80C>A" ], "proteinEffect": { "hgvs": "XP_011521993.1:p.Thr27Asn", "hgvsWellDefined": "XP_011521993.1:p.Thr27Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS090824" }, { "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "C", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_011523692.1:c.-362C>A" ], "proteinEffect": { "hgvs": "XP_011521994.1:n.-362C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS090825" }, { "coordinates": [ { "allele": "A", "end": 673, "referenceAllele": "C", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XR_934003.1:n.673C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129449" }, { "coordinates": [ { "allele": "T", "end": 430, "endIntronDirection": "-", "endIntronOffset": 2286, "referenceAllele": "G", "start": 430, "startIntronDirection": "-", "startIntronOffset": 2287 } ], "hgvs": [ "XR_934164.1:n.431-2287G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS129537" }, { "coordinates": [ { "allele": "A", "end": 671, "referenceAllele": "C", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_005256485.3:c.80C>A" ], "proteinEffect": { "hgvs": "XP_005256542.1:p.Thr27Asn", "hgvsWellDefined": "XP_005256542.1:p.Thr27Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS534485" }, { "coordinates": [ { "allele": "A", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_006721463.3:c.80C>A" ], "proteinEffect": { "hgvs": "XP_006721526.1:p.Thr27Asn", "hgvsWellDefined": "XP_006721526.1:p.Thr27Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS540299" }, { "coordinates": [ { "allele": "A", "end": 673, "referenceAllele": "C", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_006721464.2:c.-277C>A" ], "proteinEffect": { "hgvs": "XP_006721527.1:n.-277C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS540300" }, { "coordinates": [ { "allele": "A", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_011523691.2:c.80C>A" ], "proteinEffect": { "hgvs": "XP_011521993.1:p.Thr27Asn", "hgvsWellDefined": "XP_011521993.1:p.Thr27Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS547127" }, { "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "C", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_011523692.2:c.-362C>A" ], "proteinEffect": { "hgvs": "XP_011521994.1:n.-362C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS547128" }, { "coordinates": [ { "allele": "A", "end": 654, "endIntronDirection": "+", "endIntronOffset": 7195, "referenceAllele": "C", "start": 654, "startIntronDirection": "+", "startIntronOffset": 7194 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_017024254.1:c.-217+7195C>A" ], "proteinEffect": { "hgvs": "XP_016879743.1:n.-217+7195C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS574853" }, { "coordinates": [ { "allele": "A", "end": 673, "referenceAllele": "C", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_017024255.1:c.-277C>A" ], "proteinEffect": { "hgvs": "XP_016879744.1:n.-277C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS574854" }, { "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "C", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_017024256.1:c.-362C>A" ], "proteinEffect": { "hgvs": "XP_016879745.1:n.-362C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS574855" }, { "coordinates": [ { "allele": "A", "end": 654, "endIntronDirection": "+", "endIntronOffset": 7195, "referenceAllele": "C", "start": 654, "startIntronDirection": "+", "startIntronOffset": 7194 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_017024257.1:c.-217+7195C>A" ], "proteinEffect": { "hgvs": "XP_016879746.1:n.-217+7195C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS574856" }, { "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "C", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "XM_017024258.1:c.-277C>A" ], "proteinEffect": { "hgvs": "XP_016879747.1:n.-277C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS574857" }, { "coordinates": [ { "allele": "T", "end": 452, "endIntronDirection": "-", "endIntronOffset": 2286, "referenceAllele": "G", "start": 452, "startIntronDirection": "-", "startIntronOffset": 2287 } ], "hgvs": [ "XR_001752758.1:n.453-2287G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599422" }, { "coordinates": [ { "allele": "T", "end": 324, "endIntronDirection": "-", "endIntronOffset": 2286, "referenceAllele": "G", "start": 324, "startIntronDirection": "-", "startIntronOffset": 2287 } ], "hgvs": [ "XR_001752759.1:n.325-2287G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599423" }, { "coordinates": [ { "allele": "T", "end": 452, "endIntronDirection": "-", "endIntronOffset": 2286, "referenceAllele": "G", "start": 452, "startIntronDirection": "-", "startIntronOffset": 2287 } ], "hgvs": [ "XR_001752760.1:n.453-2287G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599424" }, { "coordinates": [ { "allele": "T", "end": 452, "endIntronDirection": "+", "endIntronOffset": 2702, "referenceAllele": "G", "start": 452, "startIntronDirection": "+", "startIntronOffset": 2701 } ], "hgvs": [ "XR_001752761.2:n.452+2702G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599425" }, { "coordinates": [ { "allele": "T", "end": 139, "endIntronDirection": "-", "endIntronOffset": 2286, "referenceAllele": "G", "start": 139, "startIntronDirection": "-", "startIntronOffset": 2287 } ], "hgvs": [ "XR_002958115.1:n.140-2287G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS604242" }, { "coordinates": [ { "allele": "T", "end": 452, "endIntronDirection": "-", "endIntronOffset": 2286, "referenceAllele": "G", "start": 452, "startIntronDirection": "-", "startIntronOffset": 2287 } ], "hgvs": [ "XR_934164.2:n.453-2287G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610599" }, { "@id": "http://reg.genome.network/allele/PA2828522896", "coordinates": [ { "allele": "A", "end": 381, "referenceAllele": "C", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_001374492.1:c.80C>A" ], "proteinEffect": { "hgvs": "NP_001361421.1:p.Thr27Asn", "hgvsWellDefined": "NP_001361421.1:p.Thr27Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS693298" }, { "coordinates": [ { "allele": "A", "end": 381, "referenceAllele": "C", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_001374493.1:c.-277C>A" ], "proteinEffect": { "hgvs": "NP_001361422.1:n.-277C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS693299" }, { "coordinates": [ { "allele": "A", "end": 301, "referenceAllele": "C", "start": 300 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_001374494.1:c.-362C>A" ], "proteinEffect": { "hgvs": "NP_001361423.1:n.-362C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS693300" }, { "coordinates": [ { "allele": "A", "end": 362, "endIntronDirection": "+", "endIntronOffset": 7195, "referenceAllele": "C", "start": 362, "startIntronDirection": "+", "startIntronOffset": 7194 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_001374495.1:c.-217+7195C>A" ], "proteinEffect": { "hgvs": "NP_001361424.1:n.-217+7195C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS693301" }, { "coordinates": [ { "allele": "A", "end": 301, "referenceAllele": "C", "start": 300 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_001374496.1:c.-277C>A" ], "proteinEffect": { "hgvs": "NP_001361425.1:n.-277C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS693302" }, { "@id": "http://reg.genome.network/allele/PA2573241245", "coordinates": [ { "allele": "A", "end": 381, "referenceAllele": "C", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_004937.3:c.80C>A" ], "proteinEffect": { "hgvs": "NP_004928.2:p.Thr27Asn", "hgvsWellDefined": "NP_004928.2:p.Thr27Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS696276", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000046640.9:c.80C>A" }, "RefSeq": { "hgvs": "NM_004937.3:c.80C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000046640.4:p.Thr27Asn" }, "RefSeq": { "hgvs": "NP_004928.2:p.Thr27Asn" } } } }, { "@id": "http://reg.genome.network/allele/PA2825347693", "coordinates": [ { "allele": "A", "end": 559, "referenceAllele": "C", "start": 558 } ], "gene": "http://reg.genome.network/gene/GN002518", "geneNCBI_id": 1497, "geneSymbol": "CTNS", "hgvs": [ "NM_001031681.3:c.80C>A" ], "proteinEffect": { "hgvs": "NP_001026851.2:p.Thr27Asn", "hgvsWellDefined": "NP_001026851.2:p.Thr27Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS711482" } ], "type": "nucleotide" }