Canonical Allele Identifier: CA409450318

Gene: GNAS

Linked Data

• MyVariant Identifiers: chr20:g.57478631G>C (hg19) ; chr20:g.58903576G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58903576G>C , CM000682.2:g.58903576G>C	GRCh38
NC_000020.10:g.57478631G>C , CM000682.1:g.57478631G>C	GRCh37
NC_000020.9:g.56912026G>C	NCBI36
NG_016194.1:g.68837G>C
NG_016194.2:g.68837G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2187G>C	ENSP00000265621.6:p.Glu729Asp
ENST00000419558.7:c.*161G>C	ENSP00000416234.2:n.*161G>C
ENST00000453292.7:c.902G>C	ENSP00000392000.2:n.902G>C
ENST00000462499.6:c.84G>C	ENSP00000499758.2:p.Glu28Asp
ENST00000464624.7:c.*145G>C	ENSP00000499607.2:n.*145G>C
ENST00000464788.6:c.126G>C	ENSP00000499239.2:p.Glu42Asp
ENST00000467227.6:c.84G>C	ENSP00000499681.2:p.Glu28Asp
ENST00000467321.6:c.126G>C	ENSP00000499523.2:p.Glu42Asp
ENST00000468895.6:c.303G>C	ENSP00000499551.2:p.Glu101Asp
ENST00000469431.6:c.126G>C	ENSP00000499654.2:p.Glu42Asp
ENST00000470512.6:c.129G>C	ENSP00000499552.2:p.Glu43Asp
ENST00000472183.6:c.126G>C	ENSP00000499673.2:p.Glu42Asp
ENST00000475610.2:n.809G>C
ENST00000476935.6:c.81G>C	ENSP00000499409.2:p.Glu27Asp
ENST00000478585.6:c.84G>C	ENSP00000499762.2:p.Glu28Asp
ENST00000480232.6:c.129G>C	ENSP00000499545.2:p.Glu43Asp
ENST00000481039.6:c.84G>C	ENSP00000499767.2:p.Glu28Asp
ENST00000482112.6:c.81G>C	ENSP00000499794.2:p.Glu27Asp
ENST00000485673.6:c.84G>C	ENSP00000499334.2:p.Glu28Asp
ENST00000488546.6:c.84G>C	ENSP00000499332.2:p.Glu28Asp
ENST00000488652.6:c.126G>C	ENSP00000499435.2:p.Glu42Asp
ENST00000492907.6:c.84G>C	ENSP00000499443.2:p.Glu28Asp
ENST00000603546.2:c.126G>C	ENSP00000474802.2:p.Glu42Asp
ENST00000604005.6:c.126G>C	ENSP00000474219.2:p.Glu42Asp
ENST00000663479.2:c.129G>C	ENSP00000499353.2:p.Glu43Asp
ENST00000667293.2:c.126G>C	ENSP00000499293.2:p.Glu42Asp
ENST00000676826.2:c.2235G>C	ENSP00000504675.2:p.Glu745Asp
ENST00000682092.1:n.809G>C
ENST00000682134.1:n.2229G>C
ENST00000682411.1:n.807G>C
ENST00000682590.1:n.809G>C
ENST00000682680.1:n.737G>C
ENST00000682803.1:c.-25G>C	ENSP00000507069.1:n.-25G>C
ENST00000682829.1:n.2631G>C
ENST00000682917.1:n.745G>C
ENST00000682986.1:n.809G>C
ENST00000683015.1:c.1073G>C	ENSP00000506815.1:n.1073G>C
ENST00000683632.1:n.818G>C
ENST00000683932.1:n.807G>C
ENST00000684284.1:n.2681G>C
ENST00000684466.1:n.809G>C
ENST00000684644.1:n.809G>C
ENST00000684761.1:n.809G>C
ENST00000306090.12:c.207G>C	ENSP00000304472.12:p.Glu69Asp
ENST00000349036.8:c.2187G>C	ENSP00000265621.5:p.Glu729Asp
ENST00000354359.12:c.306G>C	ENSP00000346328.7:p.Glu102Asp
ENST00000371085.8:c.303G>C MANE Select	ENSP00000360126.3:p.Glu101Asp
ENST00000371100.9:c.2232G>C MANE Plus Clinical	ENSP00000360141.3:p.Glu744Asp
ENST00000419558.6:c.*161G>C	ENSP00000416234.2:n.*161G>C
ENST00000461152.6:c.1031G>C	ENSP00000499274.1:n.1031G>C
ENST00000490374.6:n.468G>C
ENST00000657090.1:c.126G>C	ENSP00000499380.1:p.Glu42Asp
ENST00000663479.1:c.129G>C	ENSP00000499353.1:p.Glu43Asp
ENST00000667293.1:c.174G>C	ENSP00000499293.1:p.Glu58Asp
ENST00000676826.1:c.2235G>C	ENSP00000504675.1:p.Glu745Asp
ENST00000265620.11:c.258G>C	ENSP00000265620.7:p.Glu86Asp
ENST00000306090.11:c.94-6191G>C	ENSP00000304472.11:n.94-6191G>C
ENST00000313949.11:c.*206G>C	ENSP00000323571.7:n.*206G>C
ENST00000349036.7:c.354G>C	ENSP00000265621.4:p.Glu118Asp
ENST00000354359.11:c.306G>C	ENSP00000346328.7:p.Glu102Asp
ENST00000371075.7:c.*209G>C MANE Plus Clinical	ENSP00000360115.3:n.*209G>C
ENST00000371085.7:c.303G>C	ENSP00000360126.3:p.Glu101Asp
ENST00000371095.7:c.261G>C	ENSP00000360136.3:p.Glu87Asp
ENST00000371100.8:c.2232G>C	ENSP00000360141.3:p.Glu744Asp
ENST00000371102.8:c.2190G>C	ENSP00000360143.4:p.Glu730Asp
ENST00000419558.5:c.502G>C
ENST00000450130.5:c.346G>C
ENST00000461152.5:n.269G>C
ENST00000462499.5:n.380G>C
ENST00000464624.6:n.2519G>C
ENST00000464788.5:n.231G>C
ENST00000467227.5:n.244G>C
ENST00000467321.5:n.318G>C
ENST00000468895.5:n.172G>C
ENST00000469431.5:n.420G>C
ENST00000470512.5:n.377G>C
ENST00000472183.5:n.555G>C
ENST00000476196.5:n.596G>C
ENST00000476935.5:n.292G>C
ENST00000477931.5:n.418G>C
ENST00000478585.5:n.316G>C
ENST00000480232.5:n.322G>C
ENST00000480975.5:n.302G>C
ENST00000481039.5:n.220G>C
ENST00000482112.5:n.377G>C
ENST00000485673.5:n.548G>C
ENST00000487862.5:n.537G>C
ENST00000487981.5:n.40G>C
ENST00000488546.5:n.162G>C
ENST00000488652.5:n.393G>C
ENST00000490374.5:n.421G>C
ENST00000492907.5:n.254G>C
ENST00000494081.5:n.46G>C
ENST00000496934.5:n.1592G>C
ENST00000603546.1:c.126G>C	ENSP00000474802.1:p.Glu42Asp
ENST00000604005.5:c.126G>C	ENSP00000474219.1:p.Glu42Asp
NM_000516.4:c.303G>C	NP_000507.1:p.Glu101Asp
NM_000516.5:c.303G>C	NP_000507.1:p.Glu101Asp
NM_001077488.2:c.306G>C	NP_001070956.1:p.Glu102Asp
NM_001077488.3:c.306G>C	NP_001070956.1:p.Glu102Asp
NM_001077489.2:c.258G>C	NP_001070957.1:p.Glu86Asp
NM_001077489.3:c.258G>C	NP_001070957.1:p.Glu86Asp
NM_001077490.1:c.*164G>C	NP_001070958.1:n.*164G>C
NM_001077490.2:c.*164G>C	NP_001070958.1:n.*164G>C
NM_001309840.1:c.126G>C	NP_001296769.1:p.Glu42Asp
NM_001309861.1:c.126G>C	NP_001296790.1:p.Glu42Asp
NM_016592.2:c.*209G>C	NP_057676.1:n.*209G>C
NM_016592.3:c.*209G>C	NP_057676.1:n.*209G>C
NM_080425.2:c.2232G>C	NP_536350.2:p.Glu744Asp
NM_080425.3:c.2232G>C	NP_536350.2:p.Glu744Asp
NM_080426.2:c.261G>C	NP_536351.1:p.Glu87Asp
NM_080426.3:c.261G>C	NP_536351.1:p.Glu87Asp
NR_003259.1:c.-4294966903G>C
XM_017027812.2:c.2235G>C	XP_016883301.1:p.Glu745Asp
XM_017027813.2:c.2190G>C	XP_016883302.1:p.Glu730Asp
XM_017027814.2:c.2187G>C	XP_016883303.1:p.Glu729Asp
XM_017027815.1:c.162G>C	XP_016883304.1:p.Glu54Asp
XM_017027816.1:c.81G>C	XP_016883305.1:p.Glu27Asp
XM_017027817.1:c.81G>C	XP_016883306.1:p.Glu27Asp
XM_017027818.2:c.81G>C	XP_016883307.1:p.Glu27Asp
XM_017027819.1:c.81G>C	XP_016883308.1:p.Glu27Asp
XM_017027820.1:c.81G>C	XP_016883309.1:p.Glu27Asp
XM_017027821.1:c.*206G>C	XP_016883310.1:n.*206G>C
XM_017027822.1:c.*161G>C	XP_016883311.1:n.*161G>C
XM_024451872.1:c.207G>C	XP_024307640.1:p.Glu69Asp
XM_024451873.1:c.126G>C	XP_024307641.1:p.Glu42Asp
XM_024451874.1:c.126G>C	XP_024307642.1:p.Glu42Asp
XM_024451875.1:c.126G>C	XP_024307643.1:p.Glu42Asp
XR_002958471.1:n.1010G>C
NM_000516.6:c.303G>C	NP_000507.1:p.Glu101Asp
NM_001077488.4:c.306G>C	NP_001070956.1:p.Glu102Asp
NM_001077489.4:c.258G>C	NP_001070957.1:p.Glu86Asp
NM_001309840.2:c.126G>C	NP_001296769.1:p.Glu42Asp
NM_001309861.2:c.126G>C	NP_001296790.1:p.Glu42Asp
NM_016592.4:c.*209G>C	NP_057676.1:n.*209G>C
NM_080426.4:c.261G>C	NP_536351.1:p.Glu87Asp
NM_000516.7:c.303G>C MANE Select	NP_000507.1:p.Glu101Asp
NM_001077488.5:c.306G>C	NP_001070956.1:p.Glu102Asp
NM_001077490.3:c.*164G>C	NP_001070958.1:n.*164G>C
NM_016592.5:c.*209G>C MANE Plus Clinical	NP_057676.1:n.*209G>C
NM_080425.4:c.2232G>C MANE Plus Clinical	NP_536350.2:p.Glu744Asp