Canonical Allele Identifier: CA409452664

Gene: GNAS

Linked Data

• dbSNP Id: rs1555891595
• MyVariant Identifiers: chr20:g.57484813C>G (hg19) ; chr20:g.58909758C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909758C>G , CM000682.2:g.58909758C>G	GRCh38
NC_000020.10:g.57484813C>G , CM000682.1:g.57484813C>G	GRCh37
NC_000020.9:g.56918208C>G	NCBI36
NG_016194.1:g.75019C>G
NG_016194.2:g.75019C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2677C>G	ENSP00000265621.6:p.Arg893Gly
ENST00000419558.7:c.*651C>G	ENSP00000416234.2:n.*651C>G
ENST00000453292.7:c.1392C>G	ENSP00000392000.2:n.1392C>G
ENST00000462499.6:c.574C>G	ENSP00000499758.2:p.Arg192Gly
ENST00000464624.7:c.*635C>G	ENSP00000499607.2:n.*635C>G
ENST00000464788.6:c.616C>G	ENSP00000499239.2:p.Arg206Gly
ENST00000467227.6:c.574C>G	ENSP00000499681.2:p.Arg192Gly
ENST00000467321.6:c.616C>G	ENSP00000499523.2:p.Arg206Gly
ENST00000468895.6:c.793C>G	ENSP00000499551.2:p.Arg265Gly
ENST00000469431.6:c.616C>G	ENSP00000499654.2:p.Arg206Gly
ENST00000470512.6:c.619C>G	ENSP00000499552.2:p.Arg207Gly
ENST00000472183.6:c.616C>G	ENSP00000499673.2:p.Arg206Gly
ENST00000475610.2:n.1299C>G
ENST00000476935.6:c.571C>G	ENSP00000499409.2:p.Arg191Gly
ENST00000478585.6:c.574C>G	ENSP00000499762.2:p.Arg192Gly
ENST00000480232.6:c.619C>G	ENSP00000499545.2:p.Arg207Gly
ENST00000481039.6:c.574C>G	ENSP00000499767.2:p.Arg192Gly
ENST00000482112.6:c.571C>G	ENSP00000499794.2:p.Arg191Gly
ENST00000485673.6:c.574C>G	ENSP00000499334.2:p.Arg192Gly
ENST00000488546.6:c.574C>G	ENSP00000499332.2:p.Arg192Gly
ENST00000488652.6:c.616C>G	ENSP00000499435.2:p.Arg206Gly
ENST00000492907.6:c.574C>G	ENSP00000499443.2:p.Arg192Gly
ENST00000603546.2:c.616C>G	ENSP00000474802.2:p.Arg206Gly
ENST00000604005.6:c.616C>G	ENSP00000474219.2:p.Arg206Gly
ENST00000663479.2:c.619C>G	ENSP00000499353.2:p.Arg207Gly
ENST00000667293.2:c.616C>G	ENSP00000499293.2:p.Arg206Gly
ENST00000676826.2:c.2725C>G	ENSP00000504675.2:p.Arg909Gly
ENST00000682092.1:n.5077C>G
ENST00000682134.1:n.2719C>G
ENST00000682411.1:n.2888C>G
ENST00000682590.1:n.4980C>G
ENST00000682680.1:n.4994C>G
ENST00000682803.1:c.466C>G	ENSP00000507069.1:p.Arg156Gly
ENST00000682829.1:n.3121C>G
ENST00000682917.1:n.1321C>G
ENST00000682986.1:n.5210C>G
ENST00000683015.1:c.1563C>G	ENSP00000506815.1:n.1563C>G
ENST00000683632.1:n.5323C>G
ENST00000683932.1:n.6569C>G
ENST00000684284.1:n.3171C>G
ENST00000684466.1:n.1432C>G
ENST00000684644.1:n.5113C>G
ENST00000684761.1:n.1286C>G
ENST00000306090.12:c.697C>G	ENSP00000304472.12:p.Arg233Gly
ENST00000354359.12:c.796C>G	ENSP00000346328.7:p.Arg266Gly
ENST00000371085.8:c.793C>G MANE Select	ENSP00000360126.3:p.Arg265Gly
ENST00000371100.9:c.2722C>G MANE Plus Clinical	ENSP00000360141.3:p.Arg908Gly
ENST00000656419.1:c.322C>G	ENSP00000499614.1:p.Arg108Gly
ENST00000657090.1:c.616C>G	ENSP00000499380.1:p.Arg206Gly
ENST00000667293.1:c.664C>G	ENSP00000499293.1:p.Arg222Gly
ENST00000265620.11:c.748C>G	ENSP00000265620.7:p.Arg250Gly
ENST00000306090.11:c.94-9C>G	ENSP00000304472.11:n.94-9C>G
ENST00000313949.11:c.*696C>G	ENSP00000323571.7:n.*696C>G
ENST00000354359.11:c.796C>G	ENSP00000346328.7:p.Arg266Gly
ENST00000371075.7:c.*699C>G MANE Plus Clinical	ENSP00000360115.3:n.*699C>G
ENST00000371085.7:c.793C>G	ENSP00000360126.3:p.Arg265Gly
ENST00000371095.7:c.751C>G	ENSP00000360136.3:p.Arg251Gly
ENST00000371100.8:c.2722C>G	ENSP00000360141.3:p.Arg908Gly
ENST00000371102.8:c.2680C>G	ENSP00000360143.4:p.Arg894Gly
ENST00000464624.6:n.3009C>G
ENST00000470512.5:n.867C>G
ENST00000476196.5:n.1086C>G
ENST00000476935.5:n.782C>G
ENST00000477931.5:n.908C>G
ENST00000480232.5:n.812C>G
ENST00000480975.5:n.792C>G
ENST00000481039.5:n.710C>G
ENST00000487862.5:n.1027C>G
ENST00000488546.5:n.652C>G
ENST00000488652.5:n.883C>G
ENST00000492907.5:n.744C>G
ENST00000493958.5:n.516C>G
ENST00000494081.5:n.348C>G
ENST00000496934.5:n.2082C>G
NM_000516.4:c.793C>G	NP_000507.1:p.Arg265Gly
NM_000516.5:c.793C>G	NP_000507.1:p.Arg265Gly
NM_001077488.2:c.796C>G	NP_001070956.1:p.Arg266Gly
NM_001077488.3:c.796C>G	NP_001070956.1:p.Arg266Gly
NM_001077489.2:c.748C>G	NP_001070957.1:p.Arg250Gly
NM_001077489.3:c.748C>G	NP_001070957.1:p.Arg250Gly
NM_001077490.1:c.*654C>G	NP_001070958.1:n.*654C>G
NM_001077490.2:c.*654C>G	NP_001070958.1:n.*654C>G
NM_001309840.1:c.616C>G	NP_001296769.1:p.Arg206Gly
NM_001309861.1:c.616C>G	NP_001296790.1:p.Arg206Gly
NM_016592.2:c.*699C>G	NP_057676.1:n.*699C>G
NM_016592.3:c.*699C>G	NP_057676.1:n.*699C>G
NM_080425.2:c.2722C>G	NP_536350.2:p.Arg908Gly
NM_080425.3:c.2722C>G	NP_536350.2:p.Arg908Gly
NM_080426.2:c.751C>G	NP_536351.1:p.Arg251Gly
NM_080426.3:c.751C>G	NP_536351.1:p.Arg251Gly
NR_003259.1:c.-4294966413C>G
XM_017027812.2:c.2725C>G	XP_016883301.1:p.Arg909Gly
XM_017027813.2:c.2680C>G	XP_016883302.1:p.Arg894Gly
XM_017027814.2:c.2677C>G	XP_016883303.1:p.Arg893Gly
XM_017027815.1:c.652C>G	XP_016883304.1:p.Arg218Gly
XM_017027816.1:c.571C>G	XP_016883305.1:p.Arg191Gly
XM_017027817.1:c.571C>G	XP_016883306.1:p.Arg191Gly
XM_017027818.2:c.571C>G	XP_016883307.1:p.Arg191Gly
XM_017027819.1:c.571C>G	XP_016883308.1:p.Arg191Gly
XM_017027820.1:c.571C>G	XP_016883309.1:p.Arg191Gly
XM_024451872.1:c.697C>G	XP_024307640.1:p.Arg233Gly
XM_024451873.1:c.616C>G	XP_024307641.1:p.Arg206Gly
XM_024451874.1:c.616C>G	XP_024307642.1:p.Arg206Gly
XM_024451875.1:c.616C>G	XP_024307643.1:p.Arg206Gly
XR_002958471.1:n.1500C>G
NM_000516.6:c.793C>G	NP_000507.1:p.Arg265Gly
NM_001077488.4:c.796C>G	NP_001070956.1:p.Arg266Gly
NM_001077489.4:c.748C>G	NP_001070957.1:p.Arg250Gly
NM_001309840.2:c.616C>G	NP_001296769.1:p.Arg206Gly
NM_001309861.2:c.616C>G	NP_001296790.1:p.Arg206Gly
NM_016592.4:c.*699C>G	NP_057676.1:n.*699C>G
NM_080426.4:c.751C>G	NP_536351.1:p.Arg251Gly
NM_000516.7:c.793C>G MANE Select	NP_000507.1:p.Arg265Gly
NM_001077488.5:c.796C>G	NP_001070956.1:p.Arg266Gly
NM_001077490.3:c.*654C>G	NP_001070958.1:n.*654C>G
NM_016592.5:c.*699C>G MANE Plus Clinical	NP_057676.1:n.*699C>G
NM_080425.4:c.2722C>G MANE Plus Clinical	NP_536350.2:p.Arg908Gly