Canonical Allele Identifier: CA409452306

Gene: GNAS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909544G>A , CM000682.2:g.58909544G>A	GRCh38
NC_000020.10:g.57484599G>A , CM000682.1:g.57484599G>A	GRCh37
NC_000020.9:g.56917994G>A	NCBI36
NG_016194.1:g.74805G>A
NG_016194.2:g.74805G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000516.7:c.683G>A MANE Select	NP_000507.1:p.Arg228His
ENST00000371085.8:c.683G>A MANE Select	ENSP00000360126.3:p.Arg228His
NM_016592.5:c.*589G>A MANE Plus Clinical	NP_057676.1:n.*589G>A
NM_080425.4:c.2612G>A MANE Plus Clinical	NP_536350.2:p.Arg871His
ENST00000371075.7:c.*589G>A MANE Plus Clinical	ENSP00000360115.3:n.*589G>A
ENST00000371100.9:c.2612G>A MANE Plus Clinical	ENSP00000360141.3:p.Arg871His
NM_000516.4:c.683G>A	NP_000507.1:p.Arg228His
NM_000516.5:c.683G>A	NP_000507.1:p.Arg228His
NM_000516.6:c.683G>A	NP_000507.1:p.Arg228His
NM_001077488.2:c.686G>A	NP_001070956.1:p.Arg229His
NM_001077488.3:c.686G>A	NP_001070956.1:p.Arg229His
NM_001077488.4:c.686G>A	NP_001070956.1:p.Arg229His
NM_001077488.5:c.686G>A	NP_001070956.1:p.Arg229His
NM_001077489.2:c.638G>A	NP_001070957.1:p.Arg213His
NM_001077489.3:c.638G>A	NP_001070957.1:p.Arg213His
NM_001077489.4:c.638G>A	NP_001070957.1:p.Arg213His
NM_001077490.1:c.*544G>A	NP_001070958.1:n.*544G>A
NM_001077490.2:c.*544G>A	NP_001070958.1:n.*544G>A
NM_001077490.3:c.*544G>A	NP_001070958.1:n.*544G>A
NM_001309840.1:c.506G>A	NP_001296769.1:p.Arg169His
NM_001309840.2:c.506G>A	NP_001296769.1:p.Arg169His
NM_001309861.1:c.506G>A	NP_001296790.1:p.Arg169His
NM_001309861.2:c.506G>A	NP_001296790.1:p.Arg169His
NM_016592.2:c.*589G>A	NP_057676.1:n.*589G>A
NM_016592.3:c.*589G>A	NP_057676.1:n.*589G>A
NM_016592.4:c.*589G>A	NP_057676.1:n.*589G>A
NM_080425.2:c.2612G>A	NP_536350.2:p.Arg871His
NM_080425.3:c.2612G>A	NP_536350.2:p.Arg871His
NM_080426.2:c.641G>A	NP_536351.1:p.Arg214His
NM_080426.3:c.641G>A	NP_536351.1:p.Arg214His
NM_080426.4:c.641G>A	NP_536351.1:p.Arg214His
NR_003259.1:c.-4294966523G>A
ENST00000265620.11:c.638G>A	ENSP00000265620.7:p.Arg213His
ENST00000306090.11:c.94-223G>A	ENSP00000304472.11:n.94-223G>A
ENST00000306090.12:c.587G>A	ENSP00000304472.12:p.Arg196His
ENST00000313949.11:c.*586G>A	ENSP00000323571.7:n.*586G>A
ENST00000349036.9:c.2567G>A	ENSP00000265621.6:p.Arg856His
ENST00000354359.11:c.686G>A	ENSP00000346328.7:p.Arg229His
ENST00000354359.12:c.686G>A	ENSP00000346328.7:p.Arg229His
ENST00000371085.7:c.683G>A	ENSP00000360126.3:p.Arg228His
ENST00000371095.7:c.641G>A	ENSP00000360136.3:p.Arg214His
ENST00000371100.8:c.2612G>A	ENSP00000360141.3:p.Arg871His
ENST00000371102.8:c.2570G>A	ENSP00000360143.4:p.Arg857His
ENST00000419558.7:c.*541G>A	ENSP00000416234.2:n.*541G>A
ENST00000453292.7:c.1282G>A	ENSP00000392000.2:n.1282G>A
ENST00000462499.6:c.464G>A	ENSP00000499758.2:p.Arg155His
ENST00000464624.6:n.2899G>A
ENST00000464624.7:c.*525G>A	ENSP00000499607.2:n.*525G>A
ENST00000464788.6:c.506G>A	ENSP00000499239.2:p.Arg169His
ENST00000467227.6:c.464G>A	ENSP00000499681.2:p.Arg155His
ENST00000467321.5:n.698G>A
ENST00000467321.6:c.506G>A	ENSP00000499523.2:p.Arg169His
ENST00000468895.5:n.552G>A
ENST00000468895.6:c.683G>A	ENSP00000499551.2:p.Arg228His
ENST00000469431.6:c.506G>A	ENSP00000499654.2:p.Arg169His
ENST00000470512.5:n.757G>A
ENST00000470512.6:c.509G>A	ENSP00000499552.2:p.Arg170His
ENST00000472183.6:c.506G>A	ENSP00000499673.2:p.Arg169His
ENST00000475610.2:n.1189G>A
ENST00000476196.5:n.976G>A
ENST00000476935.5:n.672G>A
ENST00000476935.6:c.461G>A	ENSP00000499409.2:p.Arg154His
ENST00000477931.5:n.798G>A
ENST00000478585.6:c.464G>A	ENSP00000499762.2:p.Arg155His
ENST00000479025.1:n.399G>A
ENST00000480232.5:n.702G>A
ENST00000480232.6:c.509G>A	ENSP00000499545.2:p.Arg170His
ENST00000480975.5:n.682G>A
ENST00000481039.5:n.600G>A
ENST00000481039.6:c.464G>A	ENSP00000499767.2:p.Arg155His
ENST00000482112.6:c.461G>A	ENSP00000499794.2:p.Arg154His
ENST00000485673.6:c.464G>A	ENSP00000499334.2:p.Arg155His
ENST00000487862.5:n.917G>A
ENST00000487981.5:n.517G>A
ENST00000488546.5:n.542G>A
ENST00000488546.6:c.464G>A	ENSP00000499332.2:p.Arg155His
ENST00000488652.5:n.773G>A
ENST00000488652.6:c.506G>A	ENSP00000499435.2:p.Arg169His
ENST00000492907.5:n.634G>A
ENST00000492907.6:c.464G>A	ENSP00000499443.2:p.Arg155His
ENST00000493958.5:n.302G>A
ENST00000494081.5:n.274-140G>A
ENST00000496934.5:n.1972G>A
ENST00000603546.2:c.506G>A	ENSP00000474802.2:p.Arg169His
ENST00000604005.6:c.506G>A	ENSP00000474219.2:p.Arg169His
ENST00000656419.1:c.212G>A	ENSP00000499614.1:p.Arg71His
ENST00000657090.1:c.506G>A	ENSP00000499380.1:p.Arg169His
ENST00000663479.2:c.509G>A	ENSP00000499353.2:p.Arg170His
ENST00000667293.1:c.554G>A	ENSP00000499293.1:p.Arg185His
ENST00000667293.2:c.506G>A	ENSP00000499293.2:p.Arg169His
ENST00000676826.2:c.2615G>A	ENSP00000504675.2:p.Arg872His
ENST00000682092.1:n.4967G>A
ENST00000682134.1:n.2609G>A
ENST00000682411.1:n.2778G>A
ENST00000682590.1:n.4870G>A
ENST00000682680.1:n.4884G>A
ENST00000682803.1:c.356G>A	ENSP00000507069.1:p.Arg119His
ENST00000682829.1:n.3011G>A
ENST00000682917.1:n.1211G>A
ENST00000682986.1:n.5100G>A
ENST00000683015.1:c.1453G>A	ENSP00000506815.1:n.1453G>A
ENST00000683632.1:n.5109G>A
ENST00000683932.1:n.6459G>A
ENST00000684284.1:n.3061G>A
ENST00000684466.1:n.1322G>A
ENST00000684644.1:n.5003G>A
ENST00000684761.1:n.1176G>A
XM_017027812.2:c.2615G>A	XP_016883301.1:p.Arg872His
XM_017027813.2:c.2570G>A	XP_016883302.1:p.Arg857His
XM_017027814.2:c.2567G>A	XP_016883303.1:p.Arg856His
XM_017027815.1:c.542G>A	XP_016883304.1:p.Arg181His
XM_017027816.1:c.461G>A	XP_016883305.1:p.Arg154His
XM_017027817.1:c.461G>A	XP_016883306.1:p.Arg154His
XM_017027818.2:c.461G>A	XP_016883307.1:p.Arg154His
XM_017027819.1:c.461G>A	XP_016883308.1:p.Arg154His
XM_017027820.1:c.461G>A	XP_016883309.1:p.Arg154His
XM_024451872.1:c.587G>A	XP_024307640.1:p.Arg196His
XM_024451873.1:c.506G>A	XP_024307641.1:p.Arg169His
XM_024451874.1:c.506G>A	XP_024307642.1:p.Arg169His
XM_024451875.1:c.506G>A	XP_024307643.1:p.Arg169His
XR_002958471.1:n.1390G>A