{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401161194", "communityStandardTitle": [ "NM_001088.3(AANAT):c.385G>T (p.Ala129Ser)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.74465813G>T?assembly=hg19", "id": "chr17:g.74465813G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.76469731G>T?assembly=hg38", "id": "chr17:g.76469731G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/28936679", "rs": 28936679 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-76469731-G-T?dataset=gnomad_r4", "id": "17-76469731-G-T", "variant": "17:76469731 G / T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 76469731, "referenceAllele": "G", "start": 76469730 } ], "hgvs": [ "NC_000017.11:g.76469731G>T", "CM000679.2:g.76469731G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 74465813, "referenceAllele": "G", "start": 74465812 } ], "hgvs": [ "NC_000017.10:g.74465813G>T", "CM000679.1:g.74465813G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 71977408, "referenceAllele": "G", "start": 71977407 } ], "hgvs": [ "NC_000017.9:g.71977408G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 21381, "referenceAllele": "G", "start": 21380 } ], "hgvs": [ "NG_015976.1:g.21381G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002930" }, { "coordinates": [ { "allele": "A", "end": 36697, "referenceAllele": "C", "start": 36696 } ], "hgvs": [ "NG_032852.1:g.36697C>A", "LRG_532:g.36697C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005238" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 585, "referenceAllele": "G", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN000019", "geneNCBI_id": 15, "geneSymbol": "AANAT", "hgvs": [ "ENST00000392492.8:c.385G>T" ], "proteinEffect": { "hgvs": "ENSP00000376282.2:p.Ala129Ser", "hgvsWellDefined": "ENSP00000376282.2:p.Ala129Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS753011", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000392492.8:c.385G>T" }, "RefSeq": { "hgvs": "NM_001088.3:c.385G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000376282.2:p.Ala129Ser" }, "RefSeq": { "hgvs": "NP_001079.1:p.Ala129Ser" } } } }, { "coordinates": [ { "allele": "T", "end": 1527, "referenceAllele": "G", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN000019", "geneNCBI_id": 15, "geneSymbol": "AANAT", "hgvs": [ "ENST00000250615.7:c.520G>T" ], "proteinEffect": { "hgvs": "ENSP00000250615.2:p.Ala174Ser", "hgvsWellDefined": "ENSP00000250615.2:p.Ala174Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS249683" }, { "coordinates": [ { "allele": "T", "end": 619, "referenceAllele": "G", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN000019", "geneNCBI_id": 15, "geneSymbol": "AANAT", "hgvs": [ "ENST00000392492.7:c.385G>T" ], "proteinEffect": { "hgvs": "ENSP00000376282.2:p.Ala129Ser", "hgvsWellDefined": "ENSP00000376282.2:p.Ala129Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS275125" }, { "coordinates": [ { "allele": "T", "end": 526, "referenceAllele": "G", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN000019", "geneNCBI_id": 15, "geneSymbol": "AANAT", "hgvs": [ "ENST00000587798.1:c.*162G>T" ], "proteinEffect": { "hgvs": "ENSP00000468239.1:n.*162G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS390329" }, { "@id": "http://reg.genome.network/allele/PA3083957637", "coordinates": [ { "allele": "T", "end": 640, "referenceAllele": "G", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN000019", "geneNCBI_id": 15, "geneSymbol": "AANAT", "hgvs": [ "NM_001088.2:c.385G>T" ], "proteinEffect": { "hgvs": "NP_001079.1:p.Ala129Ser", "hgvsWellDefined": "NP_001079.1:p.Ala129Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010496" }, { "coordinates": [ { "allele": "T", "end": 1527, "referenceAllele": "G", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN000019", "geneNCBI_id": 15, "geneSymbol": "AANAT", "hgvs": [ "NM_001166579.1:c.520G>T" ], "proteinEffect": { "hgvs": "NP_001160051.1:p.Ala174Ser", "hgvsWellDefined": "NP_001160051.1:p.Ala174Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS014923" }, { "coordinates": [ { "allele": "T", "end": 696, "referenceAllele": "G", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN000019", "geneNCBI_id": 15, "geneSymbol": "AANAT", "hgvs": [ "NR_110548.1:n.696G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS054718" }, { "coordinates": [ { "allele": "T", "end": 518, "referenceAllele": "G", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN000019", "geneNCBI_id": 15, "geneSymbol": "AANAT", "hgvs": [ "XM_011524415.1:c.385G>T" ], "proteinEffect": { "hgvs": "XP_011522717.1:p.Ala129Ser", "hgvsWellDefined": "XP_011522717.1:p.Ala129Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS091540" }, { "coordinates": [ { "allele": "T", "end": 1258, "referenceAllele": "G", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN000019", "geneNCBI_id": 15, "geneSymbol": "AANAT", "hgvs": [ "XM_011524416.1:c.592G>T" ], "proteinEffect": { "hgvs": "XP_011522718.1:p.Ala198Ser", "hgvsWellDefined": "XP_011522718.1:p.Ala198Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS091541" }, { "coordinates": [ { "allele": "T", "end": 1009, "referenceAllele": "G", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN000019", "geneNCBI_id": 15, "geneSymbol": "AANAT", "hgvs": [ "XM_011524417.1:c.592G>T" ], "proteinEffect": { "hgvs": "XP_011522719.1:p.Ala198Ser", "hgvsWellDefined": "XP_011522719.1:p.Ala198Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS091542" }, { "coordinates": [ { "allele": "T", "end": 1404, "referenceAllele": "G", "start": 1403 } ], "gene": "http://reg.genome.network/gene/GN000019", "geneNCBI_id": 15, "geneSymbol": "AANAT", "hgvs": [ "XM_011524418.1:c.592G>T" ], "proteinEffect": { "hgvs": "XP_011522720.1:p.Ala198Ser", "hgvsWellDefined": "XP_011522720.1:p.Ala198Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS091543" }, { "coordinates": [ { "allele": "T", "end": 941, "referenceAllele": "G", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN000019", "geneNCBI_id": 15, "geneSymbol": "AANAT", "hgvs": [ "XM_011524419.1:c.592G>T" ], "proteinEffect": { "hgvs": "XP_011522721.1:p.Ala198Ser", "hgvsWellDefined": "XP_011522721.1:p.Ala198Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS091544" }, { "coordinates": [ { "allele": "T", "end": 1252, "referenceAllele": "G", "start": 1251 } ], "gene": "http://reg.genome.network/gene/GN000019", "geneNCBI_id": 15, "geneSymbol": "AANAT", "hgvs": [ "XM_011524420.1:c.592G>T" ], "proteinEffect": { "hgvs": "XP_011522722.1:p.Ala198Ser", "hgvsWellDefined": "XP_011522722.1:p.Ala198Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS091545" }, { "coordinates": [ { "allele": "T", "end": 1138, "referenceAllele": "G", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN000019", "geneNCBI_id": 15, "geneSymbol": "AANAT", "hgvs": [ "XM_011524421.1:c.592G>T" ], "proteinEffect": { "hgvs": "XP_011522723.1:p.Ala198Ser", "hgvsWellDefined": "XP_011522723.1:p.Ala198Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS091546" }, { "coordinates": [ { "allele": "T", "end": 1141, "referenceAllele": "G", "start": 1140 } ], "gene": "http://reg.genome.network/gene/GN000019", "geneNCBI_id": 15, "geneSymbol": "AANAT", "hgvs": [ "XM_011524422.1:c.475G>T" ], "proteinEffect": { "hgvs": "XP_011522724.1:p.Ala159Ser", "hgvsWellDefined": "XP_011522724.1:p.Ala159Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS091547" }, { "coordinates": [ { "allele": "T", "end": 824, "referenceAllele": "G", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN000019", "geneNCBI_id": 15, "geneSymbol": "AANAT", "hgvs": [ "XM_011524423.1:c.385G>T" ], "proteinEffect": { "hgvs": "XP_011522725.1:p.Ala129Ser", "hgvsWellDefined": "XP_011522725.1:p.Ala129Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS091548" }, { "coordinates": [ { "allele": "T", "end": 3186, "referenceAllele": "G", "start": 3185 } ], "gene": "http://reg.genome.network/gene/GN000019", "geneNCBI_id": 15, "geneSymbol": "AANAT", "hgvs": [ "XM_017024259.1:c.499G>T" ], "proteinEffect": { "hgvs": "XP_016879748.1:p.Ala167Ser", "hgvsWellDefined": "XP_016879748.1:p.Ala167Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS574858" }, { "@id": "http://reg.genome.network/allele/PA3083957637", "coordinates": [ { "allele": "T", "end": 585, "referenceAllele": "G", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN000019", "geneNCBI_id": 15, "geneSymbol": "AANAT", "hgvs": [ "NM_001088.3:c.385G>T" ], "proteinEffect": { "hgvs": "NP_001079.1:p.Ala129Ser", "hgvsWellDefined": "NP_001079.1:p.Ala129Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS676400", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000392492.8:c.385G>T" }, "RefSeq": { "hgvs": "NM_001088.3:c.385G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000376282.2:p.Ala129Ser" }, "RefSeq": { "hgvs": "NP_001079.1:p.Ala129Ser" } } } }, { "coordinates": [ { "allele": "T", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN000019", "geneNCBI_id": 15, "geneSymbol": "AANAT", "hgvs": [ "NR_110548.2:n.641G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS703137" }, { "coordinates": [ { "allele": "T", "end": 1527, "referenceAllele": "G", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN000019", "geneNCBI_id": 15, "geneSymbol": "AANAT", "hgvs": [ "NM_001166579.2:c.520G>T" ], "proteinEffect": { "hgvs": "NP_001160051.1:p.Ala174Ser", "hgvsWellDefined": "NP_001160051.1:p.Ala174Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS713219" } ], "type": "nucleotide" }