Canonical Allele Identifier: CA9927049

Gene: GNAS

Linked Data

• dbSNP Id: rs543620960
• ExAC: 20:57478681 T / C
• gnomAD v2: 20-57478681-T-C
• MyVariant Identifiers: chr20:g.57478681T>C (hg19) ; chr20:g.58903626T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58903626T>C , CM000682.2:g.58903626T>C	GRCh38
NC_000020.10:g.57478681T>C , CM000682.1:g.57478681T>C	GRCh37
NC_000020.9:g.56912076T>C	NCBI36
NG_016194.1:g.68887T>C
NG_016194.2:g.68887T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2196+41T>C	ENSP00000265621.6:n.2196+41T>C
ENST00000419558.7:c.*170+41T>C	ENSP00000416234.2:n.*170+41T>C
ENST00000453292.7:c.911+41T>C	ENSP00000392000.2:n.911+41T>C
ENST00000462499.6:c.93+41T>C	ENSP00000499758.2:n.93+41T>C
ENST00000464624.7:c.*154+41T>C	ENSP00000499607.2:n.*154+41T>C
ENST00000464788.6:c.135+41T>C	ENSP00000499239.2:n.135+41T>C
ENST00000467227.6:c.93+41T>C	ENSP00000499681.2:n.93+41T>C
ENST00000467321.6:c.135+41T>C	ENSP00000499523.2:n.135+41T>C
ENST00000468895.6:c.312+41T>C	ENSP00000499551.2:n.312+41T>C
ENST00000469431.6:c.135+41T>C	ENSP00000499654.2:n.135+41T>C
ENST00000470512.6:c.138+41T>C	ENSP00000499552.2:n.138+41T>C
ENST00000472183.6:c.135+41T>C	ENSP00000499673.2:n.135+41T>C
ENST00000475610.2:n.818+41T>C
ENST00000476935.6:c.90+41T>C	ENSP00000499409.2:n.90+41T>C
ENST00000478585.6:c.93+41T>C	ENSP00000499762.2:n.93+41T>C
ENST00000480232.6:c.138+41T>C	ENSP00000499545.2:n.138+41T>C
ENST00000481039.6:c.93+41T>C	ENSP00000499767.2:n.93+41T>C
ENST00000482112.6:c.90+41T>C	ENSP00000499794.2:n.90+41T>C
ENST00000485673.6:c.93+41T>C	ENSP00000499334.2:n.93+41T>C
ENST00000488546.6:c.93+41T>C	ENSP00000499332.2:n.93+41T>C
ENST00000488652.6:c.135+41T>C	ENSP00000499435.2:n.135+41T>C
ENST00000492907.6:c.93+41T>C	ENSP00000499443.2:n.93+41T>C
ENST00000603546.2:c.135+41T>C	ENSP00000474802.2:n.135+41T>C
ENST00000604005.6:c.135+41T>C	ENSP00000474219.2:n.135+41T>C
ENST00000663479.2:c.138+41T>C	ENSP00000499353.2:n.138+41T>C
ENST00000667293.2:c.135+41T>C	ENSP00000499293.2:n.135+41T>C
ENST00000676826.2:c.2244+41T>C	ENSP00000504675.2:n.2244+41T>C
ENST00000682092.1:n.818+41T>C
ENST00000682134.1:n.2238+41T>C
ENST00000682411.1:n.816+41T>C
ENST00000682590.1:n.818+41T>C
ENST00000682680.1:n.787T>C
ENST00000682803.1:c.-16+41T>C	ENSP00000507069.1:n.-16+41T>C
ENST00000682829.1:n.2640+41T>C
ENST00000682917.1:n.795T>C
ENST00000682986.1:n.818+41T>C
ENST00000683015.1:c.1082+41T>C	ENSP00000506815.1:n.1082+41T>C
ENST00000683632.1:n.827+41T>C
ENST00000683932.1:n.816+41T>C
ENST00000684284.1:n.2690+41T>C
ENST00000684466.1:n.818+41T>C
ENST00000684644.1:n.818+41T>C
ENST00000684761.1:n.818+41T>C
ENST00000306090.12:c.216+41T>C	ENSP00000304472.12:n.216+41T>C
ENST00000349036.8:c.2196+41T>C	ENSP00000265621.5:n.2196+41T>C
ENST00000354359.12:c.315+41T>C	ENSP00000346328.7:n.315+41T>C
ENST00000371085.8:c.312+41T>C MANE Select	ENSP00000360126.3:n.312+41T>C
ENST00000371100.9:c.2241+41T>C MANE Plus Clinical	ENSP00000360141.3:n.2241+41T>C
ENST00000419558.6:c.*170+41T>C	ENSP00000416234.2:n.*170+41T>C
ENST00000490374.6:n.477+41T>C
ENST00000657090.1:c.135+41T>C	ENSP00000499380.1:n.135+41T>C
ENST00000663479.1:c.138+41T>C	ENSP00000499353.1:n.138+41T>C
ENST00000667293.1:c.183+41T>C	ENSP00000499293.1:n.183+41T>C
ENST00000676826.1:c.2244+41T>C	ENSP00000504675.1:n.2244+41T>C
ENST00000265620.11:c.267+41T>C	ENSP00000265620.7:n.267+41T>C
ENST00000306090.11:c.94-6141T>C	ENSP00000304472.11:n.94-6141T>C
ENST00000313949.11:c.*215+41T>C	ENSP00000323571.7:n.*215+41T>C
ENST00000349036.7:c.363+41T>C	ENSP00000265621.4:n.363+41T>C
ENST00000354359.11:c.315+41T>C	ENSP00000346328.7:n.315+41T>C
ENST00000371075.7:c.*218+41T>C MANE Plus Clinical	ENSP00000360115.3:n.*218+41T>C
ENST00000371085.7:c.312+41T>C	ENSP00000360126.3:n.312+41T>C
ENST00000371095.7:c.270+41T>C	ENSP00000360136.3:n.270+41T>C
ENST00000371100.8:c.2241+41T>C	ENSP00000360141.3:n.2241+41T>C
ENST00000371102.8:c.2199+41T>C	ENSP00000360143.4:n.2199+41T>C
ENST00000419558.5:c.511+41T>C
ENST00000450130.5:c.355+41T>C
ENST00000462499.5:n.389+41T>C
ENST00000464624.6:n.2528+41T>C
ENST00000464788.5:n.240+41T>C
ENST00000467227.5:n.253+41T>C
ENST00000467321.5:n.327+41T>C
ENST00000468895.5:n.181+41T>C
ENST00000469431.5:n.429+41T>C
ENST00000470512.5:n.386+41T>C
ENST00000472183.5:n.564+41T>C
ENST00000476196.5:n.605+41T>C
ENST00000476935.5:n.301+41T>C
ENST00000477931.5:n.427+41T>C
ENST00000478585.5:n.325+41T>C
ENST00000480232.5:n.331+41T>C
ENST00000480975.5:n.311+41T>C
ENST00000481039.5:n.229+41T>C
ENST00000482112.5:n.386+41T>C
ENST00000485673.5:n.557+41T>C
ENST00000487862.5:n.546+41T>C
ENST00000487981.5:n.49+41T>C
ENST00000488546.5:n.171+41T>C
ENST00000488652.5:n.402+41T>C
ENST00000490374.5:n.430+41T>C
ENST00000492907.5:n.263+41T>C
ENST00000494081.5:n.55+41T>C
ENST00000496934.5:n.1601+41T>C
ENST00000603546.1:c.135+41T>C	ENSP00000474802.1:n.135+41T>C
ENST00000604005.5:c.135+41T>C	ENSP00000474219.1:n.135+41T>C
NM_000516.4:c.312+41T>C	NP_000507.1:n.312+41T>C
NM_000516.5:c.312+41T>C	NP_000507.1:n.312+41T>C
NM_001077488.2:c.315+41T>C	NP_001070956.1:n.315+41T>C
NM_001077488.3:c.315+41T>C	NP_001070956.1:n.315+41T>C
NM_001077489.2:c.267+41T>C	NP_001070957.1:n.267+41T>C
NM_001077489.3:c.267+41T>C	NP_001070957.1:n.267+41T>C
NM_001077490.1:c.*173+41T>C	NP_001070958.1:n.*173+41T>C
NM_001077490.2:c.*173+41T>C	NP_001070958.1:n.*173+41T>C
NM_001309840.1:c.135+41T>C	NP_001296769.1:n.135+41T>C
NM_001309861.1:c.135+41T>C	NP_001296790.1:n.135+41T>C
NM_016592.2:c.*218+41T>C	NP_057676.1:n.*218+41T>C
NM_016592.3:c.*218+41T>C	NP_057676.1:n.*218+41T>C
NM_080425.2:c.2241+41T>C	NP_536350.2:n.2241+41T>C
NM_080425.3:c.2241+41T>C	NP_536350.2:n.2241+41T>C
NM_080426.2:c.270+41T>C	NP_536351.1:n.270+41T>C
NM_080426.3:c.270+41T>C	NP_536351.1:n.270+41T>C
NR_003259.1:c.-4294966894+41T>C
XM_017027812.2:c.2244+41T>C	XP_016883301.1:n.2244+41T>C
XM_017027813.2:c.2199+41T>C	XP_016883302.1:n.2199+41T>C
XM_017027814.2:c.2196+41T>C	XP_016883303.1:n.2196+41T>C
XM_017027815.1:c.171+41T>C	XP_016883304.1:n.171+41T>C
XM_017027816.1:c.90+41T>C	XP_016883305.1:n.90+41T>C
XM_017027817.1:c.90+41T>C	XP_016883306.1:n.90+41T>C
XM_017027818.2:c.90+41T>C	XP_016883307.1:n.90+41T>C
XM_017027819.1:c.90+41T>C	XP_016883308.1:n.90+41T>C
XM_017027820.1:c.90+41T>C	XP_016883309.1:n.90+41T>C
XM_017027821.1:c.*215+41T>C	XP_016883310.1:n.*215+41T>C
XM_017027822.1:c.*170+41T>C	XP_016883311.1:n.*170+41T>C
XM_024451872.1:c.216+41T>C	XP_024307640.1:n.216+41T>C
XM_024451873.1:c.135+41T>C	XP_024307641.1:n.135+41T>C
XM_024451874.1:c.135+41T>C	XP_024307642.1:n.135+41T>C
XM_024451875.1:c.135+41T>C	XP_024307643.1:n.135+41T>C
XR_002958471.1:n.1019+41T>C
NM_000516.6:c.312+41T>C	NP_000507.1:n.312+41T>C
NM_001077488.4:c.315+41T>C	NP_001070956.1:n.315+41T>C
NM_001077489.4:c.267+41T>C	NP_001070957.1:n.267+41T>C
NM_001309840.2:c.135+41T>C	NP_001296769.1:n.135+41T>C
NM_001309861.2:c.135+41T>C	NP_001296790.1:n.135+41T>C
NM_016592.4:c.*218+41T>C	NP_057676.1:n.*218+41T>C
NM_080426.4:c.270+41T>C	NP_536351.1:n.270+41T>C
NM_000516.7:c.312+41T>C MANE Select	NP_000507.1:n.312+41T>C
NM_001077488.5:c.315+41T>C	NP_001070956.1:n.315+41T>C
NM_001077490.3:c.*173+41T>C	NP_001070958.1:n.*173+41T>C
NM_016592.5:c.*218+41T>C MANE Plus Clinical	NP_057676.1:n.*218+41T>C
NM_080425.4:c.2241+41T>C MANE Plus Clinical	NP_536350.2:n.2241+41T>C