Canonical Allele Identifier: CA409450720

Gene: GNAS

Linked Data

• ClinVar Variation Id: 446491
• ClinVar RCV Id: RCV000515760 ; RCV000623168 ; RCV001857879
• dbSNP Id: rs1555889131
• MyVariant Identifiers: chr20:g.57478847G>A (hg19) ; chr20:g.58903792G>A (hg38)
• PubMed: PMID:8383205 ; PMID:10980525 ; PMID:11600516 ; PMID:14561710 ; PMID:17161328 ; PMID:18796523 ; PMID:23281139 ; PMID:23884777 ; PMID:25802881 ; PMID:27431290 ; PMID:29072892

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58903792G>A , CM000682.2:g.58903792G>A	GRCh38
NC_000020.10:g.57478847G>A , CM000682.1:g.57478847G>A	GRCh37
NC_000020.9:g.56912242G>A	NCBI36
NG_016194.1:g.69053G>A
NG_016194.2:g.69053G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2316+1G>A	ENSP00000265621.6:n.2316+1G>A
ENST00000419558.7:c.*290+1G>A	ENSP00000416234.2:n.*290+1G>A
ENST00000453292.7:c.1031+1G>A	ENSP00000392000.2:n.1031+1G>A
ENST00000462499.6:c.213+1G>A	ENSP00000499758.2:n.213+1G>A
ENST00000464624.7:c.*274+1G>A	ENSP00000499607.2:n.*274+1G>A
ENST00000464788.6:c.255+1G>A	ENSP00000499239.2:n.255+1G>A
ENST00000467227.6:c.213+1G>A	ENSP00000499681.2:n.213+1G>A
ENST00000467321.6:c.255+1G>A	ENSP00000499523.2:n.255+1G>A
ENST00000468895.6:c.432+1G>A	ENSP00000499551.2:n.432+1G>A
ENST00000469431.6:c.255+1G>A	ENSP00000499654.2:n.255+1G>A
ENST00000470512.6:c.258+1G>A	ENSP00000499552.2:n.258+1G>A
ENST00000472183.6:c.255+1G>A	ENSP00000499673.2:n.255+1G>A
ENST00000475610.2:n.938+1G>A
ENST00000476935.6:c.210+1G>A	ENSP00000499409.2:n.210+1G>A
ENST00000478585.6:c.213+1G>A	ENSP00000499762.2:n.213+1G>A
ENST00000480232.6:c.258+1G>A	ENSP00000499545.2:n.258+1G>A
ENST00000481039.6:c.213+1G>A	ENSP00000499767.2:n.213+1G>A
ENST00000482112.6:c.210+1G>A	ENSP00000499794.2:n.210+1G>A
ENST00000485673.6:c.213+1G>A	ENSP00000499334.2:n.213+1G>A
ENST00000488546.6:c.213+1G>A	ENSP00000499332.2:n.213+1G>A
ENST00000488652.6:c.255+1G>A	ENSP00000499435.2:n.255+1G>A
ENST00000492907.6:c.213+1G>A	ENSP00000499443.2:n.213+1G>A
ENST00000603546.2:c.255+1G>A	ENSP00000474802.2:n.255+1G>A
ENST00000604005.6:c.255+1G>A	ENSP00000474219.2:n.255+1G>A
ENST00000663479.2:c.258+1G>A	ENSP00000499353.2:n.258+1G>A
ENST00000667293.2:c.255+1G>A	ENSP00000499293.2:n.255+1G>A
ENST00000676826.2:c.2364+1G>A	ENSP00000504675.2:n.2364+1G>A
ENST00000682092.1:n.938+1G>A
ENST00000682134.1:n.2358+1G>A
ENST00000682411.1:n.937G>A
ENST00000682590.1:n.938+1G>A
ENST00000682680.1:n.952+1G>A
ENST00000682803.1:c.105+1G>A	ENSP00000507069.1:n.105+1G>A
ENST00000682829.1:n.2760+1G>A
ENST00000682917.1:n.960+1G>A
ENST00000682986.1:n.938+1G>A
ENST00000683015.1:c.1202+1G>A	ENSP00000506815.1:n.1202+1G>A
ENST00000683632.1:n.947+1G>A
ENST00000683932.1:n.937G>A
ENST00000684284.1:n.2810+1G>A
ENST00000684466.1:n.938+1G>A
ENST00000684644.1:n.938+1G>A
ENST00000684761.1:n.938+1G>A
ENST00000306090.12:c.336+1G>A	ENSP00000304472.12:n.336+1G>A
ENST00000349036.8:c.2316+1G>A	ENSP00000265621.5:n.2316+1G>A
ENST00000354359.12:c.435+1G>A	ENSP00000346328.7:n.435+1G>A
ENST00000371085.8:c.432+1G>A MANE Select	ENSP00000360126.3:n.432+1G>A
ENST00000371100.9:c.2361+1G>A MANE Plus Clinical	ENSP00000360141.3:n.2361+1G>A
ENST00000419558.6:c.*290+1G>A	ENSP00000416234.2:n.*290+1G>A
ENST00000490374.6:n.597+1G>A
ENST00000657090.1:c.255+1G>A	ENSP00000499380.1:n.255+1G>A
ENST00000663479.1:c.258+1G>A	ENSP00000499353.1:n.258+1G>A
ENST00000667293.1:c.303+1G>A	ENSP00000499293.1:n.303+1G>A
ENST00000676826.1:c.2364+1G>A	ENSP00000504675.1:n.2364+1G>A
ENST00000265620.11:c.387+1G>A	ENSP00000265620.7:n.387+1G>A
ENST00000306090.11:c.94-5975G>A	ENSP00000304472.11:n.94-5975G>A
ENST00000313949.11:c.*335+1G>A	ENSP00000323571.7:n.*335+1G>A
ENST00000349036.7:c.483+1G>A	ENSP00000265621.4:n.483+1G>A
ENST00000354359.11:c.435+1G>A	ENSP00000346328.7:n.435+1G>A
ENST00000371075.7:c.*338+1G>A MANE Plus Clinical	ENSP00000360115.3:n.*338+1G>A
ENST00000371085.7:c.432+1G>A	ENSP00000360126.3:n.432+1G>A
ENST00000371095.7:c.390+1G>A	ENSP00000360136.3:n.390+1G>A
ENST00000371100.8:c.2361+1G>A	ENSP00000360141.3:n.2361+1G>A
ENST00000371102.8:c.2319+1G>A	ENSP00000360143.4:n.2319+1G>A
ENST00000419558.5:c.631+1G>A
ENST00000450130.5:c.475+1G>A
ENST00000464624.6:n.2648+1G>A
ENST00000464788.5:n.360+1G>A
ENST00000467227.5:n.373+1G>A
ENST00000467321.5:n.447+1G>A
ENST00000468895.5:n.301+1G>A
ENST00000469431.5:n.549+1G>A
ENST00000470512.5:n.506+1G>A
ENST00000472183.5:n.684+1G>A
ENST00000476196.5:n.725+1G>A
ENST00000476935.5:n.421+1G>A
ENST00000477931.5:n.547+1G>A
ENST00000478585.5:n.445+1G>A
ENST00000480232.5:n.451+1G>A
ENST00000480975.5:n.431+1G>A
ENST00000481039.5:n.349+1G>A
ENST00000482112.5:n.506+1G>A
ENST00000485673.5:n.677+1G>A
ENST00000487862.5:n.666+1G>A
ENST00000487981.5:n.169+1G>A
ENST00000488546.5:n.291+1G>A
ENST00000488652.5:n.522+1G>A
ENST00000490374.5:n.550+1G>A
ENST00000492907.5:n.383+1G>A
ENST00000493958.5:n.51+1G>A
ENST00000494081.5:n.175+1G>A
ENST00000496934.5:n.1721+1G>A
ENST00000603546.1:c.255+1G>A	ENSP00000474802.1:n.255+1G>A
ENST00000604005.5:c.255+1G>A	ENSP00000474219.1:n.255+1G>A
NM_000516.4:c.432+1G>A	NP_000507.1:n.432+1G>A
NM_000516.5:c.432+1G>A	NP_000507.1:n.432+1G>A
NM_001077488.2:c.435+1G>A	NP_001070956.1:n.435+1G>A
NM_001077488.3:c.435+1G>A	NP_001070956.1:n.435+1G>A
NM_001077489.2:c.387+1G>A	NP_001070957.1:n.387+1G>A
NM_001077489.3:c.387+1G>A	NP_001070957.1:n.387+1G>A
NM_001077490.1:c.*293+1G>A	NP_001070958.1:n.*293+1G>A
NM_001077490.2:c.*293+1G>A	NP_001070958.1:n.*293+1G>A
NM_001309840.1:c.255+1G>A	NP_001296769.1:n.255+1G>A
NM_001309861.1:c.255+1G>A	NP_001296790.1:n.255+1G>A
NM_016592.2:c.*338+1G>A	NP_057676.1:n.*338+1G>A
NM_016592.3:c.*338+1G>A	NP_057676.1:n.*338+1G>A
NM_080425.2:c.2361+1G>A	NP_536350.2:n.2361+1G>A
NM_080425.3:c.2361+1G>A	NP_536350.2:n.2361+1G>A
NM_080426.2:c.390+1G>A	NP_536351.1:n.390+1G>A
NM_080426.3:c.390+1G>A	NP_536351.1:n.390+1G>A
NR_003259.1:c.-4294966774+1G>A
XM_017027812.2:c.2364+1G>A	XP_016883301.1:n.2364+1G>A
XM_017027813.2:c.2319+1G>A	XP_016883302.1:n.2319+1G>A
XM_017027814.2:c.2316+1G>A	XP_016883303.1:n.2316+1G>A
XM_017027815.1:c.291+1G>A	XP_016883304.1:n.291+1G>A
XM_017027816.1:c.210+1G>A	XP_016883305.1:n.210+1G>A
XM_017027817.1:c.210+1G>A	XP_016883306.1:n.210+1G>A
XM_017027818.2:c.210+1G>A	XP_016883307.1:n.210+1G>A
XM_017027819.1:c.210+1G>A	XP_016883308.1:n.210+1G>A
XM_017027820.1:c.210+1G>A	XP_016883309.1:n.210+1G>A
XM_017027821.1:c.*335+1G>A	XP_016883310.1:n.*335+1G>A
XM_024451872.1:c.336+1G>A	XP_024307640.1:n.336+1G>A
XM_024451873.1:c.255+1G>A	XP_024307641.1:n.255+1G>A
XM_024451874.1:c.255+1G>A	XP_024307642.1:n.255+1G>A
XM_024451875.1:c.255+1G>A	XP_024307643.1:n.255+1G>A
XR_002958471.1:n.1139+1G>A
NM_000516.6:c.432+1G>A	NP_000507.1:n.432+1G>A
NM_001077488.4:c.435+1G>A	NP_001070956.1:n.435+1G>A
NM_001077489.4:c.387+1G>A	NP_001070957.1:n.387+1G>A
NM_001309840.2:c.255+1G>A	NP_001296769.1:n.255+1G>A
NM_001309861.2:c.255+1G>A	NP_001296790.1:n.255+1G>A
NM_016592.4:c.*338+1G>A	NP_057676.1:n.*338+1G>A
NM_080426.4:c.390+1G>A	NP_536351.1:n.390+1G>A
NM_000516.7:c.432+1G>A MANE Select	NP_000507.1:n.432+1G>A
NM_001077488.5:c.435+1G>A	NP_001070956.1:n.435+1G>A
NM_001077490.3:c.*293+1G>A	NP_001070958.1:n.*293+1G>A
NM_016592.5:c.*338+1G>A MANE Plus Clinical	NP_057676.1:n.*338+1G>A
NM_080425.4:c.2361+1G>A MANE Plus Clinical	NP_536350.2:n.2361+1G>A