Canonical Allele Identifier: CA126104
Gene: GNAS HGNC NCBI

Linked Data

ClinVar Variation Id: 15953
ClinVar RCV Id: RCV000017322 RCV000017323 RCV002243646
dbSNP Id: rs137854539
MyVariant Identifiers: chr20:g.57478758C>T (hg19) chr20:g.58903703C>T (hg38)
PubMed: PMID:11600516
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58903703C>T , CM000682.2:g.58903703C>T GRCh38
NC_000020.10:g.57478758C>T , CM000682.1:g.57478758C>T GRCh37
NC_000020.9:g.56912153C>T NCBI36
NG_016194.1:g.68964C>T
NG_016194.2:g.68964C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000349036.9:c.2228C>T ENSP00000265621.6:p.Pro743Leu
ENST00000419558.7:c.*202C>T ENSP00000416234.2:n.*202C>T
ENST00000453292.7:c.943C>T ENSP00000392000.2:n.943C>T
ENST00000462499.6:c.125C>T ENSP00000499758.2:p.Pro42Leu
ENST00000464624.7:c.*186C>T ENSP00000499607.2:n.*186C>T
ENST00000464788.6:c.167C>T ENSP00000499239.2:p.Pro56Leu
ENST00000467227.6:c.125C>T ENSP00000499681.2:p.Pro42Leu
ENST00000467321.6:c.167C>T ENSP00000499523.2:p.Pro56Leu
ENST00000468895.6:c.344C>T ENSP00000499551.2:p.Pro115Leu
ENST00000469431.6:c.167C>T ENSP00000499654.2:p.Pro56Leu
ENST00000470512.6:c.170C>T ENSP00000499552.2:p.Pro57Leu
ENST00000472183.6:c.167C>T ENSP00000499673.2:p.Pro56Leu
ENST00000475610.2:n.850C>T
ENST00000476935.6:c.122C>T ENSP00000499409.2:p.Pro41Leu
ENST00000478585.6:c.125C>T ENSP00000499762.2:p.Pro42Leu
ENST00000480232.6:c.170C>T ENSP00000499545.2:p.Pro57Leu
ENST00000481039.6:c.125C>T ENSP00000499767.2:p.Pro42Leu
ENST00000482112.6:c.122C>T ENSP00000499794.2:p.Pro41Leu
ENST00000485673.6:c.125C>T ENSP00000499334.2:p.Pro42Leu
ENST00000488546.6:c.125C>T ENSP00000499332.2:p.Pro42Leu
ENST00000488652.6:c.167C>T ENSP00000499435.2:p.Pro56Leu
ENST00000492907.6:c.125C>T ENSP00000499443.2:p.Pro42Leu
ENST00000603546.2:c.167C>T ENSP00000474802.2:p.Pro56Leu
ENST00000604005.6:c.167C>T ENSP00000474219.2:p.Pro56Leu
ENST00000663479.2:c.170C>T ENSP00000499353.2:p.Pro57Leu
ENST00000667293.2:c.167C>T ENSP00000499293.2:p.Pro56Leu
ENST00000676826.2:c.2276C>T ENSP00000504675.2:p.Pro759Leu
ENST00000682092.1:n.850C>T
ENST00000682134.1:n.2270C>T
ENST00000682411.1:n.848C>T
ENST00000682590.1:n.850C>T
ENST00000682680.1:n.864C>T
ENST00000682803.1:c.17C>T ENSP00000507069.1:p.Pro6Leu
ENST00000682829.1:n.2672C>T
ENST00000682917.1:n.872C>T
ENST00000682986.1:n.850C>T
ENST00000683015.1:c.1114C>T ENSP00000506815.1:n.1114C>T
ENST00000683632.1:n.859C>T
ENST00000683932.1:n.848C>T
ENST00000684284.1:n.2722C>T
ENST00000684466.1:n.850C>T
ENST00000684644.1:n.850C>T
ENST00000684761.1:n.850C>T
ENST00000306090.12:c.248C>T ENSP00000304472.12:p.Pro83Leu
ENST00000349036.8:c.2228C>T ENSP00000265621.5:p.Pro743Leu
ENST00000354359.12:c.347C>T ENSP00000346328.7:p.Pro116Leu
ENST00000371085.8:c.344C>T MANE Select ENSP00000360126.3:p.Pro115Leu
ENST00000371100.9:c.2273C>T MANE Plus Clinical ENSP00000360141.3:p.Pro758Leu
ENST00000419558.6:c.*202C>T ENSP00000416234.2:n.*202C>T
ENST00000490374.6:n.509C>T
ENST00000657090.1:c.167C>T ENSP00000499380.1:p.Pro56Leu
ENST00000663479.1:c.170C>T ENSP00000499353.1:p.Pro57Leu
ENST00000667293.1:c.215C>T ENSP00000499293.1:p.Pro72Leu
ENST00000676826.1:c.2276C>T ENSP00000504675.1:p.Pro759Leu
ENST00000265620.11:c.299C>T ENSP00000265620.7:p.Pro100Leu
ENST00000306090.11:c.94-6064C>T ENSP00000304472.11:n.94-6064C>T
ENST00000313949.11:c.*247C>T ENSP00000323571.7:n.*247C>T
ENST00000349036.7:c.395C>T ENSP00000265621.4:p.Pro132Leu
ENST00000354359.11:c.347C>T ENSP00000346328.7:p.Pro116Leu
ENST00000371075.7:c.*250C>T MANE Plus Clinical ENSP00000360115.3:n.*250C>T
ENST00000371085.7:c.344C>T ENSP00000360126.3:p.Pro115Leu
ENST00000371095.7:c.302C>T ENSP00000360136.3:p.Pro101Leu
ENST00000371100.8:c.2273C>T ENSP00000360141.3:p.Pro758Leu
ENST00000371102.8:c.2231C>T ENSP00000360143.4:p.Pro744Leu
ENST00000419558.5:c.543C>T
ENST00000450130.5:c.387C>T
ENST00000462499.5:n.421C>T
ENST00000464624.6:n.2560C>T
ENST00000464788.5:n.272C>T
ENST00000467227.5:n.285C>T
ENST00000467321.5:n.359C>T
ENST00000468895.5:n.213C>T
ENST00000469431.5:n.461C>T
ENST00000470512.5:n.418C>T
ENST00000472183.5:n.596C>T
ENST00000476196.5:n.637C>T
ENST00000476935.5:n.333C>T
ENST00000477931.5:n.459C>T
ENST00000478585.5:n.357C>T
ENST00000480232.5:n.363C>T
ENST00000480975.5:n.343C>T
ENST00000481039.5:n.261C>T
ENST00000482112.5:n.418C>T
ENST00000485673.5:n.589C>T
ENST00000487862.5:n.578C>T
ENST00000487981.5:n.81C>T
ENST00000488546.5:n.203C>T
ENST00000488652.5:n.434C>T
ENST00000490374.5:n.462C>T
ENST00000492907.5:n.295C>T
ENST00000494081.5:n.87C>T
ENST00000496934.5:n.1633C>T
ENST00000603546.1:c.167C>T ENSP00000474802.1:p.Pro56Leu
ENST00000604005.5:c.167C>T ENSP00000474219.1:p.Pro56Leu
NM_000516.4:c.344C>T NP_000507.1:p.Pro115Leu
NM_000516.5:c.344C>T NP_000507.1:p.Pro115Leu
NM_001077488.2:c.347C>T NP_001070956.1:p.Pro116Leu
NM_001077488.3:c.347C>T NP_001070956.1:p.Pro116Leu
NM_001077489.2:c.299C>T NP_001070957.1:p.Pro100Leu
NM_001077489.3:c.299C>T NP_001070957.1:p.Pro100Leu
NM_001077490.1:c.*205C>T NP_001070958.1:n.*205C>T
NM_001077490.2:c.*205C>T NP_001070958.1:n.*205C>T
NM_001309840.1:c.167C>T NP_001296769.1:p.Pro56Leu
NM_001309861.1:c.167C>T NP_001296790.1:p.Pro56Leu
NM_016592.2:c.*250C>T NP_057676.1:n.*250C>T
NM_016592.3:c.*250C>T NP_057676.1:n.*250C>T
NM_080425.2:c.2273C>T NP_536350.2:p.Pro758Leu
NM_080425.3:c.2273C>T NP_536350.2:p.Pro758Leu
NM_080426.2:c.302C>T NP_536351.1:p.Pro101Leu
NM_080426.3:c.302C>T NP_536351.1:p.Pro101Leu
NR_003259.1:c.-4294966862C>T
XM_017027812.2:c.2276C>T XP_016883301.1:p.Pro759Leu
XM_017027813.2:c.2231C>T XP_016883302.1:p.Pro744Leu
XM_017027814.2:c.2228C>T XP_016883303.1:p.Pro743Leu
XM_017027815.1:c.203C>T XP_016883304.1:p.Pro68Leu
XM_017027816.1:c.122C>T XP_016883305.1:p.Pro41Leu
XM_017027817.1:c.122C>T XP_016883306.1:p.Pro41Leu
XM_017027818.2:c.122C>T XP_016883307.1:p.Pro41Leu
XM_017027819.1:c.122C>T XP_016883308.1:p.Pro41Leu
XM_017027820.1:c.122C>T XP_016883309.1:p.Pro41Leu
XM_017027821.1:c.*247C>T XP_016883310.1:n.*247C>T
XM_017027822.1:c.*202C>T XP_016883311.1:n.*202C>T
XM_024451872.1:c.248C>T XP_024307640.1:p.Pro83Leu
XM_024451873.1:c.167C>T XP_024307641.1:p.Pro56Leu
XM_024451874.1:c.167C>T XP_024307642.1:p.Pro56Leu
XM_024451875.1:c.167C>T XP_024307643.1:p.Pro56Leu
XR_002958471.1:n.1051C>T
NM_000516.6:c.344C>T NP_000507.1:p.Pro115Leu
NM_001077488.4:c.347C>T NP_001070956.1:p.Pro116Leu
NM_001077489.4:c.299C>T NP_001070957.1:p.Pro100Leu
NM_001309840.2:c.167C>T NP_001296769.1:p.Pro56Leu
NM_001309861.2:c.167C>T NP_001296790.1:p.Pro56Leu
NM_016592.4:c.*250C>T NP_057676.1:n.*250C>T
NM_080426.4:c.302C>T NP_536351.1:p.Pro101Leu
NM_000516.7:c.344C>T MANE Select NP_000507.1:p.Pro115Leu
NM_001077488.5:c.347C>T NP_001070956.1:p.Pro116Leu
NM_001077490.3:c.*205C>T NP_001070958.1:n.*205C>T
NM_016592.5:c.*250C>T MANE Plus Clinical NP_057676.1:n.*250C>T
NM_080425.4:c.2273C>T MANE Plus Clinical NP_536350.2:p.Pro758Leu
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