{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA393135319", "communityStandardTitle": [ "NM_022369.4(STRA6):c.910G>A (p.Gly304Arg)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.74483198C>T?assembly=hg19", "id": "chr15:g.74483198C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.74190857C>T?assembly=hg38", "id": "chr15:g.74190857C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1451179181", "rs": 1451179181 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-74483198-C-T?dataset=gnomad_r2_1", "id": "15-74483198-C-T", "variant": "15:74483198 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-74190857-C-T?dataset=gnomad_r3", "id": "15-74190857-C-T", "variant": "15:74190857 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-74190857-C-T?dataset=gnomad_r4", "id": "15-74190857-C-T", "variant": "15:74190857 C / T" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 74190857, "referenceAllele": "C", "start": 74190856 } ], "hgvs": [ "NC_000015.10:g.74190857C>T", "CM000677.2:g.74190857C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 74483198, "referenceAllele": "C", "start": 74483197 } ], "hgvs": [ "NC_000015.9:g.74483198C>T", "CM000677.1:g.74483198C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 72270251, "referenceAllele": "C", "start": 72270250 } ], "hgvs": [ "NC_000015.8:g.72270251C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 23174, "referenceAllele": "G", "start": 23173 } ], "hgvs": [ "NG_009207.1:g.23174G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001480" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1000, "referenceAllele": "G", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "ENST00000395105.9:c.910G>A" ], "proteinEffect": { "hgvs": "ENSP00000378537.4:p.Gly304Arg", "hgvsWellDefined": "ENSP00000378537.4:p.Gly304Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS753359", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395105.9:c.910G>A" }, "RefSeq": { "hgvs": "NM_022369.4:c.910G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378537.4:p.Gly304Arg" }, "RefSeq": { "hgvs": "NP_071764.3:p.Gly304Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 1156, "referenceAllele": "G", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "ENST00000323940.9:c.910G>A" ], "proteinEffect": { "hgvs": "ENSP00000326085.5:p.Gly304Arg", "hgvsWellDefined": "ENSP00000326085.5:p.Gly304Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS258274" }, { "coordinates": [ { "allele": "A", "end": 1092, "referenceAllele": "G", "start": 1091 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "ENST00000395105.8:c.910G>A" ], "proteinEffect": { "hgvs": "ENSP00000378537.4:p.Gly304Arg", "hgvsWellDefined": "ENSP00000378537.4:p.Gly304Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS276520" }, { "coordinates": [ { "allele": "A", "end": 1042, "referenceAllele": "G", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "ENST00000416286.7:c.886G>A" ], "proteinEffect": { "hgvs": "ENSP00000400403.3:p.Gly296Arg", "hgvsWellDefined": "ENSP00000400403.3:p.Gly296Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS284401" }, { "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "G", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "ENST00000423167.6:c.883G>A" ], "proteinEffect": { "hgvs": "ENSP00000413012.2:p.Gly295Arg", "hgvsWellDefined": "ENSP00000413012.2:p.Gly295Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS287626" }, { "coordinates": [ { "allele": "A", "end": 1024, "referenceAllele": "G", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "ENST00000449139.6:c.910G>A" ], "proteinEffect": { "hgvs": "ENSP00000410221.2:p.Gly304Arg", "hgvsWellDefined": "ENSP00000410221.2:p.Gly304Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS300060" }, { "coordinates": [ { "allele": "A", "end": 1272, "referenceAllele": "G", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "ENST00000535552.5:c.1021G>A" ], "proteinEffect": { "hgvs": "ENSP00000440238.1:p.Gly341Arg", "hgvsWellDefined": "ENSP00000440238.1:p.Gly341Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS359794" }, { "coordinates": [ { "allele": "A", "end": 619, "referenceAllele": "G", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "ENST00000545137.5:n.619G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS364950" }, { "coordinates": [ { "allele": "A", "end": 1366, "referenceAllele": "G", "start": 1365 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "ENST00000563965.5:c.1027G>A" ], "proteinEffect": { "hgvs": "ENSP00000456609.1:p.Gly343Arg", "hgvsWellDefined": "ENSP00000456609.1:p.Gly343Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS377771" }, { "coordinates": [ { "allele": "A", "end": 1145, "referenceAllele": "G", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "ENST00000569936.5:c.1040G>A" ], "proteinEffect": { "hgvs": "ENSP00000461799.1:p.Arg347Lys", "hgvsWellDefined": "ENSP00000461799.1:p.Arg347Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS381798" }, { "coordinates": [ { "allele": "A", "end": 1283, "referenceAllele": "G", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "ENST00000574278.5:c.955G>A" ], "proteinEffect": { "hgvs": "ENSP00000458827.1:p.Gly319Arg", "hgvsWellDefined": "ENSP00000458827.1:p.Gly319Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS383618" }, { "coordinates": [ { "allele": "A", "end": 1182, "referenceAllele": "G", "start": 1181 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "ENST00000574439.5:n.1182G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS383687" }, { "coordinates": [ { "allele": "A", "end": 1138, "referenceAllele": "G", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "ENST00000616000.4:c.910G>A" ], "proteinEffect": { "hgvs": "ENSP00000479112.1:p.Gly304Arg", "hgvsWellDefined": "ENSP00000479112.1:p.Gly304Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS402865" }, { "coordinates": [ { "allele": "A", "end": 1156, "referenceAllele": "G", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "NM_001142617.1:c.910G>A" ], "proteinEffect": { "hgvs": "NP_001136089.1:p.Gly304Arg", "hgvsWellDefined": "NP_001136089.1:p.Gly304Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS013005" }, { "coordinates": [ { "allele": "A", "end": 1138, "referenceAllele": "G", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "NM_001142618.1:c.910G>A" ], "proteinEffect": { "hgvs": "NP_001136090.1:p.Gly304Arg", "hgvsWellDefined": "NP_001136090.1:p.Gly304Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS013006" }, { "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "G", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "NM_001142619.1:c.883G>A" ], "proteinEffect": { "hgvs": "NP_001136091.1:p.Gly295Arg", "hgvsWellDefined": "NP_001136091.1:p.Gly295Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS013007" }, { "coordinates": [ { "allele": "A", "end": 1272, "referenceAllele": "G", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "NM_001199040.1:c.1021G>A" ], "proteinEffect": { "hgvs": "NP_001185969.1:p.Gly341Arg", "hgvsWellDefined": "NP_001185969.1:p.Gly341Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS016959" }, { "coordinates": [ { "allele": "A", "end": 1283, "referenceAllele": "G", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "NM_001199041.1:c.955G>A" ], "proteinEffect": { "hgvs": "NP_001185970.1:p.Gly319Arg", "hgvsWellDefined": "NP_001185970.1:p.Gly319Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS016960" }, { "coordinates": [ { "allele": "A", "end": 1387, "referenceAllele": "G", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "NM_001199042.1:c.1027G>A" ], "proteinEffect": { "hgvs": "NP_001185971.1:p.Gly343Arg", "hgvsWellDefined": "NP_001185971.1:p.Gly343Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS016961" }, { "@id": "http://reg.genome.network/allele/PA3082441716", "coordinates": [ { "allele": "A", "end": 1092, "referenceAllele": "G", "start": 1091 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "NM_022369.3:c.910G>A" ], "proteinEffect": { "hgvs": "NP_071764.3:p.Gly304Arg", "hgvsWellDefined": "NP_071764.3:p.Gly304Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS037296" }, { "coordinates": [ { "allele": "A", "end": 1058, "referenceAllele": "G", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "XM_011521883.1:c.910G>A" ], "proteinEffect": { "hgvs": "XP_011520185.1:p.Gly304Arg", "hgvsWellDefined": "XP_011520185.1:p.Gly304Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS089042" }, { "coordinates": [ { "allele": "A", "end": 1199, "referenceAllele": "G", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "XM_011521884.1:c.721G>A" ], "proteinEffect": { "hgvs": "XP_011520186.1:p.Gly241Arg", "hgvsWellDefined": "XP_011520186.1:p.Gly241Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS089043" }, { "coordinates": [ { "allele": "A", "end": 1033, "referenceAllele": "G", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "XM_011521885.1:c.1027G>A" ], "proteinEffect": { "hgvs": "XP_011520187.1:p.Gly343Arg", "hgvsWellDefined": "XP_011520187.1:p.Gly343Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS089044" }, { "coordinates": [ { "allele": "A", "end": 1033, "referenceAllele": "G", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "XR_931877.1:n.1033G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127950" }, { "coordinates": [ { "allele": "A", "end": 1033, "referenceAllele": "G", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "XM_011521885.2:c.1027G>A" ], "proteinEffect": { "hgvs": "XP_011520187.1:p.Gly343Arg", "hgvsWellDefined": "XP_011520187.1:p.Gly343Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS546364" }, { "coordinates": [ { "allele": "A", "end": 1007, "referenceAllele": "G", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "XM_017022478.1:c.958G>A" ], "proteinEffect": { "hgvs": "XP_016877967.1:p.Gly320Arg", "hgvsWellDefined": "XP_016877967.1:p.Gly320Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS573445" }, { "coordinates": [ { "allele": "A", "end": 1098, "referenceAllele": "G", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "XM_017022479.1:c.910G>A" ], "proteinEffect": { "hgvs": "XP_016877968.1:p.Gly304Arg", "hgvsWellDefined": "XP_016877968.1:p.Gly304Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS573446" }, { "coordinates": [ { "allele": "A", "end": 1122, "referenceAllele": "G", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "XM_017022480.1:c.721G>A" ], "proteinEffect": { "hgvs": "XP_016877969.1:p.Gly241Arg", "hgvsWellDefined": "XP_016877969.1:p.Gly241Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS573447" }, { "coordinates": [ { "allele": "A", "end": 1033, "referenceAllele": "G", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "XR_931877.2:n.1033G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610046" }, { "@id": "http://reg.genome.network/allele/PA3082441716", "coordinates": [ { "allele": "A", "end": 1000, "referenceAllele": "G", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "NM_022369.4:c.910G>A" ], "proteinEffect": { "hgvs": "NP_071764.3:p.Gly304Arg", "hgvsWellDefined": "NP_071764.3:p.Gly304Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS670429", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395105.9:c.910G>A" }, "RefSeq": { "hgvs": "NM_022369.4:c.910G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378537.4:p.Gly304Arg" }, "RefSeq": { "hgvs": "NP_071764.3:p.Gly304Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 1115, "referenceAllele": "G", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "NM_001142617.2:c.910G>A" ], "proteinEffect": { "hgvs": "NP_001136089.1:p.Gly304Arg", "hgvsWellDefined": "NP_001136089.1:p.Gly304Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677592" }, { "coordinates": [ { "allele": "A", "end": 1088, "referenceAllele": "G", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "NM_001142619.2:c.883G>A" ], "proteinEffect": { "hgvs": "NP_001136091.1:p.Gly295Arg", "hgvsWellDefined": "NP_001136091.1:p.Gly295Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS677593" }, { "coordinates": [ { "allele": "A", "end": 1295, "referenceAllele": "G", "start": 1294 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "NM_001199042.2:c.1027G>A" ], "proteinEffect": { "hgvs": "NP_001185971.1:p.Gly343Arg", "hgvsWellDefined": "NP_001185971.1:p.Gly343Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS679480" }, { "coordinates": [ { "allele": "A", "end": 980, "referenceAllele": "G", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "NM_001142618.2:c.910G>A" ], "proteinEffect": { "hgvs": "NP_001136090.1:p.Gly304Arg", "hgvsWellDefined": "NP_001136090.1:p.Gly304Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS712610" }, { "coordinates": [ { "allele": "A", "end": 1272, "referenceAllele": "G", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "NM_001199040.2:c.1021G>A" ], "proteinEffect": { "hgvs": "NP_001185969.1:p.Gly341Arg", "hgvsWellDefined": "NP_001185969.1:p.Gly341Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS713935" }, { "coordinates": [ { "allele": "A", "end": 1283, "referenceAllele": "G", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN030650", "geneNCBI_id": 64220, "geneSymbol": "STRA6", "hgvs": [ "NM_001199041.2:c.955G>A" ], "proteinEffect": { "hgvs": "NP_001185970.1:p.Gly319Arg", "hgvsWellDefined": "NP_001185970.1:p.Gly319Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS713936" } ], "type": "nucleotide" }