Canonical Allele Identifier: CA126074

Gene: GNAS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909541A>G , CM000682.2:g.58909541A>G	GRCh38
NC_000020.10:g.57484596A>G , CM000682.1:g.57484596A>G	GRCh37
NC_000020.9:g.56917991A>G	NCBI36
NG_016194.1:g.74802A>G
NG_016194.2:g.74802A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000516.7:c.680A>G MANE Select	NP_000507.1:p.Gln227Arg
ENST00000371085.8:c.680A>G MANE Select	ENSP00000360126.3:p.Gln227Arg
NM_016592.5:c.*586A>G MANE Plus Clinical	NP_057676.1:n.*586A>G
NM_080425.4:c.2609A>G MANE Plus Clinical	NP_536350.2:p.Gln870Arg
ENST00000371075.7:c.*586A>G MANE Plus Clinical	ENSP00000360115.3:n.*586A>G
ENST00000371100.9:c.2609A>G MANE Plus Clinical	ENSP00000360141.3:p.Gln870Arg
NM_000516.4:c.680A>G	NP_000507.1:p.Gln227Arg
NM_000516.5:c.680A>G	NP_000507.1:p.Gln227Arg
NM_000516.6:c.680A>G	NP_000507.1:p.Gln227Arg
NM_001077488.2:c.683A>G	NP_001070956.1:p.Gln228Arg
NM_001077488.3:c.683A>G	NP_001070956.1:p.Gln228Arg
NM_001077488.4:c.683A>G	NP_001070956.1:p.Gln228Arg
NM_001077488.5:c.683A>G	NP_001070956.1:p.Gln228Arg
NM_001077489.2:c.635A>G	NP_001070957.1:p.Gln212Arg
NM_001077489.3:c.635A>G	NP_001070957.1:p.Gln212Arg
NM_001077489.4:c.635A>G	NP_001070957.1:p.Gln212Arg
NM_001077490.1:c.*541A>G	NP_001070958.1:n.*541A>G
NM_001077490.2:c.*541A>G	NP_001070958.1:n.*541A>G
NM_001077490.3:c.*541A>G	NP_001070958.1:n.*541A>G
NM_001309840.1:c.503A>G	NP_001296769.1:p.Gln168Arg
NM_001309840.2:c.503A>G	NP_001296769.1:p.Gln168Arg
NM_001309861.1:c.503A>G	NP_001296790.1:p.Gln168Arg
NM_001309861.2:c.503A>G	NP_001296790.1:p.Gln168Arg
NM_016592.2:c.*586A>G	NP_057676.1:n.*586A>G
NM_016592.3:c.*586A>G	NP_057676.1:n.*586A>G
NM_016592.4:c.*586A>G	NP_057676.1:n.*586A>G
NM_080425.2:c.2609A>G	NP_536350.2:p.Gln870Arg
NM_080425.3:c.2609A>G	NP_536350.2:p.Gln870Arg
NM_080426.2:c.638A>G	NP_536351.1:p.Gln213Arg
NM_080426.3:c.638A>G	NP_536351.1:p.Gln213Arg
NM_080426.4:c.638A>G	NP_536351.1:p.Gln213Arg
NR_003259.1:c.-4294966526A>G
ENST00000265620.11:c.635A>G	ENSP00000265620.7:p.Gln212Arg
ENST00000306090.11:c.94-226A>G	ENSP00000304472.11:n.94-226A>G
ENST00000306090.12:c.584A>G	ENSP00000304472.12:p.Gln195Arg
ENST00000313949.11:c.*583A>G	ENSP00000323571.7:n.*583A>G
ENST00000349036.9:c.2564A>G	ENSP00000265621.6:p.Gln855Arg
ENST00000354359.11:c.683A>G	ENSP00000346328.7:p.Gln228Arg
ENST00000354359.12:c.683A>G	ENSP00000346328.7:p.Gln228Arg
ENST00000371085.7:c.680A>G	ENSP00000360126.3:p.Gln227Arg
ENST00000371095.7:c.638A>G	ENSP00000360136.3:p.Gln213Arg
ENST00000371100.8:c.2609A>G	ENSP00000360141.3:p.Gln870Arg
ENST00000371102.8:c.2567A>G	ENSP00000360143.4:p.Gln856Arg
ENST00000419558.7:c.*538A>G	ENSP00000416234.2:n.*538A>G
ENST00000453292.7:c.1279A>G	ENSP00000392000.2:n.1279A>G
ENST00000462499.6:c.461A>G	ENSP00000499758.2:p.Gln154Arg
ENST00000464624.6:n.2896A>G
ENST00000464624.7:c.*522A>G	ENSP00000499607.2:n.*522A>G
ENST00000464788.6:c.503A>G	ENSP00000499239.2:p.Gln168Arg
ENST00000467227.6:c.461A>G	ENSP00000499681.2:p.Gln154Arg
ENST00000467321.5:n.695A>G
ENST00000467321.6:c.503A>G	ENSP00000499523.2:p.Gln168Arg
ENST00000468895.5:n.549A>G
ENST00000468895.6:c.680A>G	ENSP00000499551.2:p.Gln227Arg
ENST00000469431.6:c.503A>G	ENSP00000499654.2:p.Gln168Arg
ENST00000470512.5:n.754A>G
ENST00000470512.6:c.506A>G	ENSP00000499552.2:p.Gln169Arg
ENST00000472183.6:c.503A>G	ENSP00000499673.2:p.Gln168Arg
ENST00000475610.2:n.1186A>G
ENST00000476196.5:n.973A>G
ENST00000476935.5:n.669A>G
ENST00000476935.6:c.458A>G	ENSP00000499409.2:p.Gln153Arg
ENST00000477931.5:n.795A>G
ENST00000478585.6:c.461A>G	ENSP00000499762.2:p.Gln154Arg
ENST00000479025.1:n.396A>G
ENST00000480232.5:n.699A>G
ENST00000480232.6:c.506A>G	ENSP00000499545.2:p.Gln169Arg
ENST00000480975.5:n.679A>G
ENST00000481039.5:n.597A>G
ENST00000481039.6:c.461A>G	ENSP00000499767.2:p.Gln154Arg
ENST00000482112.6:c.458A>G	ENSP00000499794.2:p.Gln153Arg
ENST00000485673.6:c.461A>G	ENSP00000499334.2:p.Gln154Arg
ENST00000487862.5:n.914A>G
ENST00000487981.5:n.514A>G
ENST00000488546.5:n.539A>G
ENST00000488546.6:c.461A>G	ENSP00000499332.2:p.Gln154Arg
ENST00000488652.5:n.770A>G
ENST00000488652.6:c.503A>G	ENSP00000499435.2:p.Gln168Arg
ENST00000492907.5:n.631A>G
ENST00000492907.6:c.461A>G	ENSP00000499443.2:p.Gln154Arg
ENST00000493958.5:n.299A>G
ENST00000494081.5:n.274-143A>G
ENST00000496934.5:n.1969A>G
ENST00000603546.2:c.503A>G	ENSP00000474802.2:p.Gln168Arg
ENST00000604005.6:c.503A>G	ENSP00000474219.2:p.Gln168Arg
ENST00000656419.1:c.209A>G	ENSP00000499614.1:p.Gln70Arg
ENST00000657090.1:c.503A>G	ENSP00000499380.1:p.Gln168Arg
ENST00000663479.2:c.506A>G	ENSP00000499353.2:p.Gln169Arg
ENST00000667293.1:c.551A>G	ENSP00000499293.1:p.Gln184Arg
ENST00000667293.2:c.503A>G	ENSP00000499293.2:p.Gln168Arg
ENST00000676826.2:c.2612A>G	ENSP00000504675.2:p.Gln871Arg
ENST00000682092.1:n.4964A>G
ENST00000682134.1:n.2606A>G
ENST00000682411.1:n.2775A>G
ENST00000682590.1:n.4867A>G
ENST00000682680.1:n.4881A>G
ENST00000682803.1:c.353A>G	ENSP00000507069.1:p.Gln118Arg
ENST00000682829.1:n.3008A>G
ENST00000682917.1:n.1208A>G
ENST00000682986.1:n.5097A>G
ENST00000683015.1:c.1450A>G	ENSP00000506815.1:n.1450A>G
ENST00000683632.1:n.5106A>G
ENST00000683932.1:n.6456A>G
ENST00000684284.1:n.3058A>G
ENST00000684466.1:n.1319A>G
ENST00000684644.1:n.5000A>G
ENST00000684761.1:n.1173A>G
XM_017027812.2:c.2612A>G	XP_016883301.1:p.Gln871Arg
XM_017027813.2:c.2567A>G	XP_016883302.1:p.Gln856Arg
XM_017027814.2:c.2564A>G	XP_016883303.1:p.Gln855Arg
XM_017027815.1:c.539A>G	XP_016883304.1:p.Gln180Arg
XM_017027816.1:c.458A>G	XP_016883305.1:p.Gln153Arg
XM_017027817.1:c.458A>G	XP_016883306.1:p.Gln153Arg
XM_017027818.2:c.458A>G	XP_016883307.1:p.Gln153Arg
XM_017027819.1:c.458A>G	XP_016883308.1:p.Gln153Arg
XM_017027820.1:c.458A>G	XP_016883309.1:p.Gln153Arg
XM_024451872.1:c.584A>G	XP_024307640.1:p.Gln195Arg
XM_024451873.1:c.503A>G	XP_024307641.1:p.Gln168Arg
XM_024451874.1:c.503A>G	XP_024307642.1:p.Gln168Arg
XM_024451875.1:c.503A>G	XP_024307643.1:p.Gln168Arg
XR_002958471.1:n.1387A>G