{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2206692585", "communityStandardTitle": [ "NM_001134407.3(GRIN2A):c.4375A= (p.Ser1459=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/869312681", "rs": 869312681 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 9763169, "referenceAllele": "T", "start": 9763168 } ], "hgvs": [ "NC_000016.10:g.9763169T=", "CM000678.2:g.9763169T=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 9857026, "referenceAllele": "T", "start": 9857025 } ], "hgvs": [ "NC_000016.9:g.9857026T=", "CM000678.1:g.9857026T=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 9764527, "referenceAllele": "T", "start": 9764526 } ], "hgvs": [ "NC_000016.8:g.9764527T=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 424586, "referenceAllele": "A", "start": 424585 } ], "hgvs": [ "NG_011812.1:g.424586A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS001995" }, { "coordinates": [ { "allele": "A", "end": 424586, "referenceAllele": "A", "start": 424585 } ], "hgvs": [ "NG_011812.2:g.424586A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS673563" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4945, "referenceAllele": "A", "start": 4944 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "ENST00000330684.4:c.4375A=" ], "proteinEffect": { "hgvs": "ENSP00000332549.3:p.Ser1459=" }, "referenceSequence": "http://reg.genome.network/refseq/RS747087", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000330684.4:c.4375A=" }, "RefSeq": { "hgvs": "NM_001134407.3:c.4375A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332549.3:p.Ser1459=" }, "RefSeq": { "hgvs": "NP_001127879.1:p.Ser1459=" } } } }, { "coordinates": [ { "allele": "A", "end": 3702, "referenceAllele": "A", "start": 3701 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "ENST00000535259.6:c.*186A=" ], "proteinEffect": { "hgvs": "ENSP00000441572.3:n.*186A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS759434" }, { "coordinates": [ { "allele": "A", "end": 3625, "referenceAllele": "A", "start": 3624 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "ENST00000636273.2:n.3625A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS763001" }, { "coordinates": [ { "allele": "A", "end": 4210, "referenceAllele": "A", "start": 4209 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "ENST00000674742.1:c.3904A=" ], "proteinEffect": { "hgvs": "ENSP00000502200.1:p.Ser1302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS774663" }, { "coordinates": [ { "allele": "A", "end": 4589, "referenceAllele": "A", "start": 4588 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "ENST00000675398.1:c.*1745A=" ], "proteinEffect": { "hgvs": "ENSP00000502752.1:n.*1745A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS775223" }, { "coordinates": [ { "allele": "A", "end": 4923, "referenceAllele": "A", "start": 4922 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "ENST00000330684.3:c.4375A=" ], "proteinEffect": { "hgvs": "ENSP00000332549.3:p.Ser1459=" }, "referenceSequence": "http://reg.genome.network/refseq/RS259276" }, { "coordinates": [ { "allele": "A", "end": 4685, "referenceAllele": "A", "start": 4684 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "ENST00000396573.6:c.4375A=" ], "proteinEffect": { "hgvs": "ENSP00000379818.2:p.Ser1459=" }, "referenceSequence": "http://reg.genome.network/refseq/RS277333" }, { "coordinates": [ { "allele": "A", "end": 3964, "referenceAllele": "A", "start": 3963 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "ENST00000396575.6:c.3964A=" ], "proteinEffect": { "hgvs": "ENSP00000379820.3:p.Ser1322=" }, "referenceSequence": "http://reg.genome.network/refseq/RS277334" }, { "coordinates": [ { "allele": "A", "end": 3671, "referenceAllele": "A", "start": 3670 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "ENST00000461292.3:n.3671A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS305835" }, { "coordinates": [ { "allele": "A", "end": 3625, "referenceAllele": "A", "start": 3624 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "ENST00000535259.5:c.*186A=" ], "proteinEffect": { "hgvs": "ENSP00000441572.2:n.*186A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS359621" }, { "coordinates": [ { "allele": "A", "end": 4061, "referenceAllele": "A", "start": 4060 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "ENST00000562109.5:c.*186A=" ], "proteinEffect": { "hgvs": "ENSP00000454998.1:n.*186A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS376568" }, { "@id": "http://reg.genome.network/allele/PA3083227190", "coordinates": [ { "allele": "A", "end": 4685, "referenceAllele": "A", "start": 4684 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "NM_000833.4:c.4375A=" ], "proteinEffect": { "hgvs": "NP_000824.1:p.Ser1459=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006862" }, { "coordinates": [ { "allele": "A", "end": 4923, "referenceAllele": "A", "start": 4922 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "NM_001134407.2:c.4375A=" ], "proteinEffect": { "hgvs": "NP_001127879.1:p.Ser1459=" }, "referenceSequence": "http://reg.genome.network/refseq/RS012230" }, { "coordinates": [ { "allele": "A", "end": 4241, "referenceAllele": "A", "start": 4240 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "NM_001134408.2:c.*186A=" ], "proteinEffect": { "hgvs": "NP_001127880.1:n.*186A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS012231" }, { "coordinates": [ { "allele": "A", "end": 4231, "referenceAllele": "A", "start": 4230 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "XM_011522456.1:c.4216A=" ], "proteinEffect": { "hgvs": "XP_011520758.1:p.Ser1406=" }, "referenceSequence": "http://reg.genome.network/refseq/RS089607" }, { "coordinates": [ { "allele": "A", "end": 4127, "referenceAllele": "A", "start": 4126 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "XM_011522457.1:c.4117A=" ], "proteinEffect": { "hgvs": "XP_011520759.1:p.Ser1373=" }, "referenceSequence": "http://reg.genome.network/refseq/RS089608" }, { "coordinates": [ { "allele": "A", "end": 4185, "referenceAllele": "A", "start": 4184 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "XM_011522458.1:c.3904A=" ], "proteinEffect": { "hgvs": "XP_011520760.1:p.Ser1302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS089609" }, { "coordinates": [ { "allele": "A", "end": 4329, "referenceAllele": "A", "start": 4328 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "XM_011522459.1:c.3904A=" ], "proteinEffect": { "hgvs": "XP_011520761.1:p.Ser1302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS089610" }, { "coordinates": [ { "allele": "A", "end": 4325, "referenceAllele": "A", "start": 4324 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "XM_011522460.1:c.3904A=" ], "proteinEffect": { "hgvs": "XP_011520762.1:p.Ser1302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS089611" }, { "coordinates": [ { "allele": "A", "end": 4952, "referenceAllele": "A", "start": 4951 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "XM_011522461.1:c.*186A=" ], "proteinEffect": { "hgvs": "XP_011520763.1:n.*186A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS089612" }, { "coordinates": [ { "allele": "A", "end": 4169, "referenceAllele": "A", "start": 4168 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "XM_011522458.3:c.3904A=" ], "proteinEffect": { "hgvs": "XP_011520760.1:p.Ser1302=" }, "referenceSequence": "http://reg.genome.network/refseq/RS546597" }, { "coordinates": [ { "allele": "A", "end": 4516, "referenceAllele": "A", "start": 4515 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "XM_011522461.3:c.*186A=" ], "proteinEffect": { "hgvs": "XP_011520763.1:n.*186A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS546598" }, { "coordinates": [ { "allele": "A", "end": 4796, "referenceAllele": "A", "start": 4795 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "XM_017023172.1:c.4531A=" ], "proteinEffect": { "hgvs": "XP_016878661.1:p.Ser1511=" }, "referenceSequence": "http://reg.genome.network/refseq/RS573976" }, { "coordinates": [ { "allele": "A", "end": 4453, "referenceAllele": "A", "start": 4452 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "XM_017023173.1:c.*186A=" ], "proteinEffect": { "hgvs": "XP_016878662.1:n.*186A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS573977" }, { "coordinates": [ { "allele": "A", "end": 4945, "referenceAllele": "A", "start": 4944 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "NM_001134407.3:c.4375A=" ], "proteinEffect": { "hgvs": "NP_001127879.1:p.Ser1459=" }, "referenceSequence": "http://reg.genome.network/refseq/RS663623", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000330684.4:c.4375A=" }, "RefSeq": { "hgvs": "NM_001134407.3:c.4375A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332549.3:p.Ser1459=" }, "RefSeq": { "hgvs": "NP_001127879.1:p.Ser1459=" } } } }, { "@id": "http://reg.genome.network/allele/PA3083227190", "coordinates": [ { "allele": "A", "end": 4839, "referenceAllele": "A", "start": 4838 } ], "gene": "http://reg.genome.network/gene/GN004585", "geneNCBI_id": 2903, "geneSymbol": "GRIN2A", "hgvs": [ "NM_000833.5:c.4375A=" ], "proteinEffect": { "hgvs": "NP_000824.1:p.Ser1459=" }, "referenceSequence": "http://reg.genome.network/refseq/RS674962" } ], "type": "nucleotide" }