Canonical Allele Identifier: CA409452424

Gene: GNAS

Linked Data

• MyVariant Identifiers: chr20:g.57484748C>G (hg19) ; chr20:g.58909693C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909693C>G , CM000682.2:g.58909693C>G	GRCh38
NC_000020.10:g.57484748C>G , CM000682.1:g.57484748C>G	GRCh37
NC_000020.9:g.56918143C>G	NCBI36
NG_016194.1:g.74954C>G
NG_016194.2:g.74954C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2612C>G	ENSP00000265621.6:p.Ala871Gly
ENST00000419558.7:c.*586C>G	ENSP00000416234.2:n.*586C>G
ENST00000453292.7:c.1327C>G	ENSP00000392000.2:n.1327C>G
ENST00000462499.6:c.509C>G	ENSP00000499758.2:p.Ala170Gly
ENST00000464624.7:c.*570C>G	ENSP00000499607.2:n.*570C>G
ENST00000464788.6:c.551C>G	ENSP00000499239.2:p.Ala184Gly
ENST00000467227.6:c.509C>G	ENSP00000499681.2:p.Ala170Gly
ENST00000467321.6:c.551C>G	ENSP00000499523.2:p.Ala184Gly
ENST00000468895.6:c.728C>G	ENSP00000499551.2:p.Ala243Gly
ENST00000469431.6:c.551C>G	ENSP00000499654.2:p.Ala184Gly
ENST00000470512.6:c.554C>G	ENSP00000499552.2:p.Ala185Gly
ENST00000472183.6:c.551C>G	ENSP00000499673.2:p.Ala184Gly
ENST00000475610.2:n.1234C>G
ENST00000476935.6:c.506C>G	ENSP00000499409.2:p.Ala169Gly
ENST00000478585.6:c.509C>G	ENSP00000499762.2:p.Ala170Gly
ENST00000480232.6:c.554C>G	ENSP00000499545.2:p.Ala185Gly
ENST00000481039.6:c.509C>G	ENSP00000499767.2:p.Ala170Gly
ENST00000482112.6:c.506C>G	ENSP00000499794.2:p.Ala169Gly
ENST00000485673.6:c.509C>G	ENSP00000499334.2:p.Ala170Gly
ENST00000488546.6:c.509C>G	ENSP00000499332.2:p.Ala170Gly
ENST00000488652.6:c.551C>G	ENSP00000499435.2:p.Ala184Gly
ENST00000492907.6:c.509C>G	ENSP00000499443.2:p.Ala170Gly
ENST00000603546.2:c.551C>G	ENSP00000474802.2:p.Ala184Gly
ENST00000604005.6:c.551C>G	ENSP00000474219.2:p.Ala184Gly
ENST00000663479.2:c.554C>G	ENSP00000499353.2:p.Ala185Gly
ENST00000667293.2:c.551C>G	ENSP00000499293.2:p.Ala184Gly
ENST00000676826.2:c.2660C>G	ENSP00000504675.2:p.Ala887Gly
ENST00000682092.1:n.5012C>G
ENST00000682134.1:n.2654C>G
ENST00000682411.1:n.2823C>G
ENST00000682590.1:n.4915C>G
ENST00000682680.1:n.4929C>G
ENST00000682803.1:c.401C>G	ENSP00000507069.1:p.Ala134Gly
ENST00000682829.1:n.3056C>G
ENST00000682917.1:n.1256C>G
ENST00000682986.1:n.5145C>G
ENST00000683015.1:c.1498C>G	ENSP00000506815.1:n.1498C>G
ENST00000683632.1:n.5258C>G
ENST00000683932.1:n.6504C>G
ENST00000684284.1:n.3106C>G
ENST00000684466.1:n.1367C>G
ENST00000684644.1:n.5048C>G
ENST00000684761.1:n.1221C>G
ENST00000306090.12:c.632C>G	ENSP00000304472.12:p.Ala211Gly
ENST00000354359.12:c.731C>G	ENSP00000346328.7:p.Ala244Gly
ENST00000371085.8:c.728C>G MANE Select	ENSP00000360126.3:p.Ala243Gly
ENST00000371100.9:c.2657C>G MANE Plus Clinical	ENSP00000360141.3:p.Ala886Gly
ENST00000656419.1:c.257C>G	ENSP00000499614.1:p.Ala86Gly
ENST00000657090.1:c.551C>G	ENSP00000499380.1:p.Ala184Gly
ENST00000667293.1:c.599C>G	ENSP00000499293.1:p.Ala200Gly
ENST00000265620.11:c.683C>G	ENSP00000265620.7:p.Ala228Gly
ENST00000306090.11:c.94-74C>G	ENSP00000304472.11:n.94-74C>G
ENST00000313949.11:c.*631C>G	ENSP00000323571.7:n.*631C>G
ENST00000354359.11:c.731C>G	ENSP00000346328.7:p.Ala244Gly
ENST00000371075.7:c.*634C>G MANE Plus Clinical	ENSP00000360115.3:n.*634C>G
ENST00000371085.7:c.728C>G	ENSP00000360126.3:p.Ala243Gly
ENST00000371095.7:c.686C>G	ENSP00000360136.3:p.Ala229Gly
ENST00000371100.8:c.2657C>G	ENSP00000360141.3:p.Ala886Gly
ENST00000371102.8:c.2615C>G	ENSP00000360143.4:p.Ala872Gly
ENST00000464624.6:n.2944C>G
ENST00000470512.5:n.802C>G
ENST00000476196.5:n.1021C>G
ENST00000476935.5:n.717C>G
ENST00000477931.5:n.843C>G
ENST00000479025.1:n.444C>G
ENST00000480232.5:n.747C>G
ENST00000480975.5:n.727C>G
ENST00000481039.5:n.645C>G
ENST00000487862.5:n.962C>G
ENST00000487981.5:n.562C>G
ENST00000488546.5:n.587C>G
ENST00000488652.5:n.818C>G
ENST00000492907.5:n.679C>G
ENST00000493958.5:n.451C>G
ENST00000494081.5:n.283C>G
ENST00000496934.5:n.2017C>G
NM_000516.4:c.728C>G	NP_000507.1:p.Ala243Gly
NM_000516.5:c.728C>G	NP_000507.1:p.Ala243Gly
NM_001077488.2:c.731C>G	NP_001070956.1:p.Ala244Gly
NM_001077488.3:c.731C>G	NP_001070956.1:p.Ala244Gly
NM_001077489.2:c.683C>G	NP_001070957.1:p.Ala228Gly
NM_001077489.3:c.683C>G	NP_001070957.1:p.Ala228Gly
NM_001077490.1:c.*589C>G	NP_001070958.1:n.*589C>G
NM_001077490.2:c.*589C>G	NP_001070958.1:n.*589C>G
NM_001309840.1:c.551C>G	NP_001296769.1:p.Ala184Gly
NM_001309861.1:c.551C>G	NP_001296790.1:p.Ala184Gly
NM_016592.2:c.*634C>G	NP_057676.1:n.*634C>G
NM_016592.3:c.*634C>G	NP_057676.1:n.*634C>G
NM_080425.2:c.2657C>G	NP_536350.2:p.Ala886Gly
NM_080425.3:c.2657C>G	NP_536350.2:p.Ala886Gly
NM_080426.2:c.686C>G	NP_536351.1:p.Ala229Gly
NM_080426.3:c.686C>G	NP_536351.1:p.Ala229Gly
NR_003259.1:c.-4294966478C>G
XM_017027812.2:c.2660C>G	XP_016883301.1:p.Ala887Gly
XM_017027813.2:c.2615C>G	XP_016883302.1:p.Ala872Gly
XM_017027814.2:c.2612C>G	XP_016883303.1:p.Ala871Gly
XM_017027815.1:c.587C>G	XP_016883304.1:p.Ala196Gly
XM_017027816.1:c.506C>G	XP_016883305.1:p.Ala169Gly
XM_017027817.1:c.506C>G	XP_016883306.1:p.Ala169Gly
XM_017027818.2:c.506C>G	XP_016883307.1:p.Ala169Gly
XM_017027819.1:c.506C>G	XP_016883308.1:p.Ala169Gly
XM_017027820.1:c.506C>G	XP_016883309.1:p.Ala169Gly
XM_024451872.1:c.632C>G	XP_024307640.1:p.Ala211Gly
XM_024451873.1:c.551C>G	XP_024307641.1:p.Ala184Gly
XM_024451874.1:c.551C>G	XP_024307642.1:p.Ala184Gly
XM_024451875.1:c.551C>G	XP_024307643.1:p.Ala184Gly
XR_002958471.1:n.1435C>G
NM_000516.6:c.728C>G	NP_000507.1:p.Ala243Gly
NM_001077488.4:c.731C>G	NP_001070956.1:p.Ala244Gly
NM_001077489.4:c.683C>G	NP_001070957.1:p.Ala228Gly
NM_001309840.2:c.551C>G	NP_001296769.1:p.Ala184Gly
NM_001309861.2:c.551C>G	NP_001296790.1:p.Ala184Gly
NM_016592.4:c.*634C>G	NP_057676.1:n.*634C>G
NM_080426.4:c.686C>G	NP_536351.1:p.Ala229Gly
NM_000516.7:c.728C>G MANE Select	NP_000507.1:p.Ala243Gly
NM_001077488.5:c.731C>G	NP_001070956.1:p.Ala244Gly
NM_001077490.3:c.*589C>G	NP_001070958.1:n.*589C>G
NM_016592.5:c.*634C>G MANE Plus Clinical	NP_057676.1:n.*634C>G
NM_080425.4:c.2657C>G MANE Plus Clinical	NP_536350.2:p.Ala886Gly