Canonical Allele Identifier: CA409452756

Gene: GNAS

Linked Data

• MyVariant Identifiers: chr20:g.57484838T>G (hg19) ; chr20:g.58909783T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909783T>G , CM000682.2:g.58909783T>G	GRCh38
NC_000020.10:g.57484838T>G , CM000682.1:g.57484838T>G	GRCh37
NC_000020.9:g.56918233T>G	NCBI36
NG_016194.1:g.75044T>G
NG_016194.2:g.75044T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2702T>G	ENSP00000265621.6:p.Phe901Cys
ENST00000419558.7:c.*676T>G	ENSP00000416234.2:n.*676T>G
ENST00000453292.7:c.1417T>G	ENSP00000392000.2:n.1417T>G
ENST00000462499.6:c.599T>G	ENSP00000499758.2:p.Phe200Cys
ENST00000464624.7:c.*660T>G	ENSP00000499607.2:n.*660T>G
ENST00000464788.6:c.641T>G	ENSP00000499239.2:p.Phe214Cys
ENST00000467227.6:c.599T>G	ENSP00000499681.2:p.Phe200Cys
ENST00000467321.6:c.641T>G	ENSP00000499523.2:p.Phe214Cys
ENST00000468895.6:c.818T>G	ENSP00000499551.2:p.Phe273Cys
ENST00000469431.6:c.641T>G	ENSP00000499654.2:p.Phe214Cys
ENST00000470512.6:c.644T>G	ENSP00000499552.2:p.Phe215Cys
ENST00000472183.6:c.641T>G	ENSP00000499673.2:p.Phe214Cys
ENST00000475610.2:n.1324T>G
ENST00000476935.6:c.596T>G	ENSP00000499409.2:p.Phe199Cys
ENST00000478585.6:c.599T>G	ENSP00000499762.2:p.Phe200Cys
ENST00000480232.6:c.644T>G	ENSP00000499545.2:p.Phe215Cys
ENST00000481039.6:c.599T>G	ENSP00000499767.2:p.Phe200Cys
ENST00000482112.6:c.596T>G	ENSP00000499794.2:p.Phe199Cys
ENST00000485673.6:c.599T>G	ENSP00000499334.2:p.Phe200Cys
ENST00000488546.6:c.599T>G	ENSP00000499332.2:p.Phe200Cys
ENST00000488652.6:c.641T>G	ENSP00000499435.2:p.Phe214Cys
ENST00000492907.6:c.599T>G	ENSP00000499443.2:p.Phe200Cys
ENST00000603546.2:c.641T>G	ENSP00000474802.2:p.Phe214Cys
ENST00000604005.6:c.641T>G	ENSP00000474219.2:p.Phe214Cys
ENST00000663479.2:c.644T>G	ENSP00000499353.2:p.Phe215Cys
ENST00000667293.2:c.641T>G	ENSP00000499293.2:p.Phe214Cys
ENST00000676826.2:c.2750T>G	ENSP00000504675.2:p.Phe917Cys
ENST00000682092.1:n.5102T>G
ENST00000682134.1:n.2744T>G
ENST00000682411.1:n.2913T>G
ENST00000682590.1:n.5005T>G
ENST00000682680.1:n.5019T>G
ENST00000682803.1:c.491T>G	ENSP00000507069.1:p.Phe164Cys
ENST00000682829.1:n.3146T>G
ENST00000682917.1:n.1346T>G
ENST00000682986.1:n.5235T>G
ENST00000683015.1:c.1588T>G	ENSP00000506815.1:n.1588T>G
ENST00000683632.1:n.5348T>G
ENST00000683932.1:n.6594T>G
ENST00000684284.1:n.3196T>G
ENST00000684466.1:n.1457T>G
ENST00000684644.1:n.5138T>G
ENST00000684761.1:n.1311T>G
ENST00000306090.12:c.722T>G	ENSP00000304472.12:p.Phe241Cys
ENST00000354359.12:c.821T>G	ENSP00000346328.7:p.Phe274Cys
ENST00000371085.8:c.818T>G MANE Select	ENSP00000360126.3:p.Phe273Cys
ENST00000371100.9:c.2747T>G MANE Plus Clinical	ENSP00000360141.3:p.Phe916Cys
ENST00000656419.1:c.347T>G	ENSP00000499614.1:p.Phe116Cys
ENST00000657090.1:c.641T>G	ENSP00000499380.1:p.Phe214Cys
ENST00000667293.1:c.689T>G	ENSP00000499293.1:p.Phe230Cys
ENST00000265620.11:c.773T>G	ENSP00000265620.7:p.Phe258Cys
ENST00000306090.11:c.110T>G	ENSP00000304472.11:p.Phe37Cys
ENST00000313949.11:c.*721T>G	ENSP00000323571.7:n.*721T>G
ENST00000354359.11:c.821T>G	ENSP00000346328.7:p.Phe274Cys
ENST00000371075.7:c.*724T>G MANE Plus Clinical	ENSP00000360115.3:n.*724T>G
ENST00000371085.7:c.818T>G	ENSP00000360126.3:p.Phe273Cys
ENST00000371095.7:c.776T>G	ENSP00000360136.3:p.Phe259Cys
ENST00000371100.8:c.2747T>G	ENSP00000360141.3:p.Phe916Cys
ENST00000371102.8:c.2705T>G	ENSP00000360143.4:p.Phe902Cys
ENST00000464624.6:n.3034T>G
ENST00000470512.5:n.892T>G
ENST00000476196.5:n.1111T>G
ENST00000476935.5:n.807T>G
ENST00000477931.5:n.933T>G
ENST00000480232.5:n.837T>G
ENST00000480975.5:n.817T>G
ENST00000481039.5:n.735T>G
ENST00000487862.5:n.1052T>G
ENST00000488546.5:n.677T>G
ENST00000488652.5:n.908T>G
ENST00000492907.5:n.769T>G
ENST00000494081.5:n.373T>G
ENST00000496934.5:n.2107T>G
NM_000516.4:c.818T>G	NP_000507.1:p.Phe273Cys
NM_000516.5:c.818T>G	NP_000507.1:p.Phe273Cys
NM_001077488.2:c.821T>G	NP_001070956.1:p.Phe274Cys
NM_001077488.3:c.821T>G	NP_001070956.1:p.Phe274Cys
NM_001077489.2:c.773T>G	NP_001070957.1:p.Phe258Cys
NM_001077489.3:c.773T>G	NP_001070957.1:p.Phe258Cys
NM_001077490.1:c.*679T>G	NP_001070958.1:n.*679T>G
NM_001077490.2:c.*679T>G	NP_001070958.1:n.*679T>G
NM_001309840.1:c.641T>G	NP_001296769.1:p.Phe214Cys
NM_001309861.1:c.641T>G	NP_001296790.1:p.Phe214Cys
NM_016592.2:c.*724T>G	NP_057676.1:n.*724T>G
NM_016592.3:c.*724T>G	NP_057676.1:n.*724T>G
NM_080425.2:c.2747T>G	NP_536350.2:p.Phe916Cys
NM_080425.3:c.2747T>G	NP_536350.2:p.Phe916Cys
NM_080426.2:c.776T>G	NP_536351.1:p.Phe259Cys
NM_080426.3:c.776T>G	NP_536351.1:p.Phe259Cys
NR_003259.1:c.-4294966388T>G
XM_017027812.2:c.2750T>G	XP_016883301.1:p.Phe917Cys
XM_017027813.2:c.2705T>G	XP_016883302.1:p.Phe902Cys
XM_017027814.2:c.2702T>G	XP_016883303.1:p.Phe901Cys
XM_017027815.1:c.677T>G	XP_016883304.1:p.Phe226Cys
XM_017027816.1:c.596T>G	XP_016883305.1:p.Phe199Cys
XM_017027817.1:c.596T>G	XP_016883306.1:p.Phe199Cys
XM_017027818.2:c.596T>G	XP_016883307.1:p.Phe199Cys
XM_017027819.1:c.596T>G	XP_016883308.1:p.Phe199Cys
XM_017027820.1:c.596T>G	XP_016883309.1:p.Phe199Cys
XM_024451872.1:c.722T>G	XP_024307640.1:p.Phe241Cys
XM_024451873.1:c.641T>G	XP_024307641.1:p.Phe214Cys
XM_024451874.1:c.641T>G	XP_024307642.1:p.Phe214Cys
XM_024451875.1:c.641T>G	XP_024307643.1:p.Phe214Cys
XR_002958471.1:n.1525T>G
NM_000516.6:c.818T>G	NP_000507.1:p.Phe273Cys
NM_001077488.4:c.821T>G	NP_001070956.1:p.Phe274Cys
NM_001077489.4:c.773T>G	NP_001070957.1:p.Phe258Cys
NM_001309840.2:c.641T>G	NP_001296769.1:p.Phe214Cys
NM_001309861.2:c.641T>G	NP_001296790.1:p.Phe214Cys
NM_016592.4:c.*724T>G	NP_057676.1:n.*724T>G
NM_080426.4:c.776T>G	NP_536351.1:p.Phe259Cys
NM_000516.7:c.818T>G MANE Select	NP_000507.1:p.Phe273Cys
NM_001077488.5:c.821T>G	NP_001070956.1:p.Phe274Cys
NM_001077490.3:c.*679T>G	NP_001070958.1:n.*679T>G
NM_016592.5:c.*724T>G MANE Plus Clinical	NP_057676.1:n.*724T>G
NM_080425.4:c.2747T>G MANE Plus Clinical	NP_536350.2:p.Phe916Cys