Canonical Allele Identifier: CA409452327

Gene: GNAS

Linked Data

• dbSNP Id: rs137854538
• MyVariant Identifiers: chr20:g.57484608G>C (hg19) ; chr20:g.58909553G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909553G>C , CM000682.2:g.58909553G>C	GRCh38
NC_000020.10:g.57484608G>C , CM000682.1:g.57484608G>C	GRCh37
NC_000020.9:g.56918003G>C	NCBI36
NG_016194.1:g.74814G>C
NG_016194.2:g.74814G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000349036.9:c.2576G>C	ENSP00000265621.6:p.Arg859Pro
ENST00000419558.7:c.*550G>C	ENSP00000416234.2:n.*550G>C
ENST00000453292.7:c.1291G>C	ENSP00000392000.2:n.1291G>C
ENST00000462499.6:c.473G>C	ENSP00000499758.2:p.Arg158Pro
ENST00000464624.7:c.*534G>C	ENSP00000499607.2:n.*534G>C
ENST00000464788.6:c.515G>C	ENSP00000499239.2:p.Arg172Pro
ENST00000467227.6:c.473G>C	ENSP00000499681.2:p.Arg158Pro
ENST00000467321.6:c.515G>C	ENSP00000499523.2:p.Arg172Pro
ENST00000468895.6:c.692G>C	ENSP00000499551.2:p.Arg231Pro
ENST00000469431.6:c.515G>C	ENSP00000499654.2:p.Arg172Pro
ENST00000470512.6:c.518G>C	ENSP00000499552.2:p.Arg173Pro
ENST00000472183.6:c.515G>C	ENSP00000499673.2:p.Arg172Pro
ENST00000475610.2:n.1198G>C
ENST00000476935.6:c.470G>C	ENSP00000499409.2:p.Arg157Pro
ENST00000478585.6:c.473G>C	ENSP00000499762.2:p.Arg158Pro
ENST00000480232.6:c.518G>C	ENSP00000499545.2:p.Arg173Pro
ENST00000481039.6:c.473G>C	ENSP00000499767.2:p.Arg158Pro
ENST00000482112.6:c.470G>C	ENSP00000499794.2:p.Arg157Pro
ENST00000485673.6:c.473G>C	ENSP00000499334.2:p.Arg158Pro
ENST00000488546.6:c.473G>C	ENSP00000499332.2:p.Arg158Pro
ENST00000488652.6:c.515G>C	ENSP00000499435.2:p.Arg172Pro
ENST00000492907.6:c.473G>C	ENSP00000499443.2:p.Arg158Pro
ENST00000603546.2:c.515G>C	ENSP00000474802.2:p.Arg172Pro
ENST00000604005.6:c.515G>C	ENSP00000474219.2:p.Arg172Pro
ENST00000663479.2:c.518G>C	ENSP00000499353.2:p.Arg173Pro
ENST00000667293.2:c.515G>C	ENSP00000499293.2:p.Arg172Pro
ENST00000676826.2:c.2624G>C	ENSP00000504675.2:p.Arg875Pro
ENST00000682092.1:n.4976G>C
ENST00000682134.1:n.2618G>C
ENST00000682411.1:n.2787G>C
ENST00000682590.1:n.4879G>C
ENST00000682680.1:n.4893G>C
ENST00000682803.1:c.365G>C	ENSP00000507069.1:p.Arg122Pro
ENST00000682829.1:n.3020G>C
ENST00000682917.1:n.1220G>C
ENST00000682986.1:n.5109G>C
ENST00000683015.1:c.1462G>C	ENSP00000506815.1:n.1462G>C
ENST00000683632.1:n.5118G>C
ENST00000683932.1:n.6468G>C
ENST00000684284.1:n.3070G>C
ENST00000684466.1:n.1331G>C
ENST00000684644.1:n.5012G>C
ENST00000684761.1:n.1185G>C
ENST00000306090.12:c.596G>C	ENSP00000304472.12:p.Arg199Pro
ENST00000354359.12:c.695G>C	ENSP00000346328.7:p.Arg232Pro
ENST00000371085.8:c.692G>C MANE Select	ENSP00000360126.3:p.Arg231Pro
ENST00000371100.9:c.2621G>C MANE Plus Clinical	ENSP00000360141.3:p.Arg874Pro
ENST00000656419.1:c.221G>C	ENSP00000499614.1:p.Arg74Pro
ENST00000657090.1:c.515G>C	ENSP00000499380.1:p.Arg172Pro
ENST00000667293.1:c.563G>C	ENSP00000499293.1:p.Arg188Pro
ENST00000265620.11:c.647G>C	ENSP00000265620.7:p.Arg216Pro
ENST00000306090.11:c.94-214G>C	ENSP00000304472.11:n.94-214G>C
ENST00000313949.11:c.*595G>C	ENSP00000323571.7:n.*595G>C
ENST00000354359.11:c.695G>C	ENSP00000346328.7:p.Arg232Pro
ENST00000371075.7:c.*598G>C MANE Plus Clinical	ENSP00000360115.3:n.*598G>C
ENST00000371085.7:c.692G>C	ENSP00000360126.3:p.Arg231Pro
ENST00000371095.7:c.650G>C	ENSP00000360136.3:p.Arg217Pro
ENST00000371100.8:c.2621G>C	ENSP00000360141.3:p.Arg874Pro
ENST00000371102.8:c.2579G>C	ENSP00000360143.4:p.Arg860Pro
ENST00000464624.6:n.2908G>C
ENST00000467321.5:n.707G>C
ENST00000468895.5:n.561G>C
ENST00000470512.5:n.766G>C
ENST00000476196.5:n.985G>C
ENST00000476935.5:n.681G>C
ENST00000477931.5:n.807G>C
ENST00000479025.1:n.408G>C
ENST00000480232.5:n.711G>C
ENST00000480975.5:n.691G>C
ENST00000481039.5:n.609G>C
ENST00000487862.5:n.926G>C
ENST00000487981.5:n.526G>C
ENST00000488546.5:n.551G>C
ENST00000488652.5:n.782G>C
ENST00000492907.5:n.643G>C
ENST00000493958.5:n.311G>C
ENST00000494081.5:n.274-131G>C
ENST00000496934.5:n.1981G>C
NM_000516.4:c.692G>C	NP_000507.1:p.Arg231Pro
NM_000516.5:c.692G>C	NP_000507.1:p.Arg231Pro
NM_001077488.2:c.695G>C	NP_001070956.1:p.Arg232Pro
NM_001077488.3:c.695G>C	NP_001070956.1:p.Arg232Pro
NM_001077489.2:c.647G>C	NP_001070957.1:p.Arg216Pro
NM_001077489.3:c.647G>C	NP_001070957.1:p.Arg216Pro
NM_001077490.1:c.*553G>C	NP_001070958.1:n.*553G>C
NM_001077490.2:c.*553G>C	NP_001070958.1:n.*553G>C
NM_001309840.1:c.515G>C	NP_001296769.1:p.Arg172Pro
NM_001309861.1:c.515G>C	NP_001296790.1:p.Arg172Pro
NM_016592.2:c.*598G>C	NP_057676.1:n.*598G>C
NM_016592.3:c.*598G>C	NP_057676.1:n.*598G>C
NM_080425.2:c.2621G>C	NP_536350.2:p.Arg874Pro
NM_080425.3:c.2621G>C	NP_536350.2:p.Arg874Pro
NM_080426.2:c.650G>C	NP_536351.1:p.Arg217Pro
NM_080426.3:c.650G>C	NP_536351.1:p.Arg217Pro
NR_003259.1:c.-4294966514G>C
XM_017027812.2:c.2624G>C	XP_016883301.1:p.Arg875Pro
XM_017027813.2:c.2579G>C	XP_016883302.1:p.Arg860Pro
XM_017027814.2:c.2576G>C	XP_016883303.1:p.Arg859Pro
XM_017027815.1:c.551G>C	XP_016883304.1:p.Arg184Pro
XM_017027816.1:c.470G>C	XP_016883305.1:p.Arg157Pro
XM_017027817.1:c.470G>C	XP_016883306.1:p.Arg157Pro
XM_017027818.2:c.470G>C	XP_016883307.1:p.Arg157Pro
XM_017027819.1:c.470G>C	XP_016883308.1:p.Arg157Pro
XM_017027820.1:c.470G>C	XP_016883309.1:p.Arg157Pro
XM_024451872.1:c.596G>C	XP_024307640.1:p.Arg199Pro
XM_024451873.1:c.515G>C	XP_024307641.1:p.Arg172Pro
XM_024451874.1:c.515G>C	XP_024307642.1:p.Arg172Pro
XM_024451875.1:c.515G>C	XP_024307643.1:p.Arg172Pro
XR_002958471.1:n.1399G>C
NM_000516.6:c.692G>C	NP_000507.1:p.Arg231Pro
NM_001077488.4:c.695G>C	NP_001070956.1:p.Arg232Pro
NM_001077489.4:c.647G>C	NP_001070957.1:p.Arg216Pro
NM_001309840.2:c.515G>C	NP_001296769.1:p.Arg172Pro
NM_001309861.2:c.515G>C	NP_001296790.1:p.Arg172Pro
NM_016592.4:c.*598G>C	NP_057676.1:n.*598G>C
NM_080426.4:c.650G>C	NP_536351.1:p.Arg217Pro
NM_000516.7:c.692G>C MANE Select	NP_000507.1:p.Arg231Pro
NM_001077488.5:c.695G>C	NP_001070956.1:p.Arg232Pro
NM_001077490.3:c.*553G>C	NP_001070958.1:n.*553G>C
NM_016592.5:c.*598G>C MANE Plus Clinical	NP_057676.1:n.*598G>C
NM_080425.4:c.2621G>C MANE Plus Clinical	NP_536350.2:p.Arg874Pro