Canonical Allele Identifier: CA511087422

Gene: GNAS

Linked Data

• gnomAD v4: 20-58909775-G-C
• MyVariant Identifiers: chr20:g.57484830G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909775G>C , CM000682.2:g.58909775G>C	GRCh38
NC_000020.10:g.57484830G>C , CM000682.1:g.57484830G>C	GRCh37
NC_000020.9:g.56918225G>C	NCBI36
NG_016194.1:g.75036G>C
NG_016194.2:g.75036G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2694G>C	ENSP00000265621.6:p.Leu898=
ENST00000419558.7:c.*668G>C	ENSP00000416234.2:n.*668G>C
ENST00000453292.7:c.1409G>C	ENSP00000392000.2:n.1409G>C
ENST00000462499.6:c.591G>C	ENSP00000499758.2:p.Leu197=
ENST00000464624.7:c.*652G>C	ENSP00000499607.2:n.*652G>C
ENST00000464788.6:c.633G>C	ENSP00000499239.2:p.Leu211=
ENST00000467227.6:c.591G>C	ENSP00000499681.2:p.Leu197=
ENST00000467321.6:c.633G>C	ENSP00000499523.2:p.Leu211=
ENST00000468895.6:c.810G>C	ENSP00000499551.2:p.Leu270=
ENST00000469431.6:c.633G>C	ENSP00000499654.2:p.Leu211=
ENST00000470512.6:c.636G>C	ENSP00000499552.2:p.Leu212=
ENST00000472183.6:c.633G>C	ENSP00000499673.2:p.Leu211=
ENST00000475610.2:n.1316G>C
ENST00000476935.6:c.588G>C	ENSP00000499409.2:p.Leu196=
ENST00000478585.6:c.591G>C	ENSP00000499762.2:p.Leu197=
ENST00000480232.6:c.636G>C	ENSP00000499545.2:p.Leu212=
ENST00000481039.6:c.591G>C	ENSP00000499767.2:p.Leu197=
ENST00000482112.6:c.588G>C	ENSP00000499794.2:p.Leu196=
ENST00000485673.6:c.591G>C	ENSP00000499334.2:p.Leu197=
ENST00000488546.6:c.591G>C	ENSP00000499332.2:p.Leu197=
ENST00000488652.6:c.633G>C	ENSP00000499435.2:p.Leu211=
ENST00000492907.6:c.591G>C	ENSP00000499443.2:p.Leu197=
ENST00000603546.2:c.633G>C	ENSP00000474802.2:p.Leu211=
ENST00000604005.6:c.633G>C	ENSP00000474219.2:p.Leu211=
ENST00000663479.2:c.636G>C	ENSP00000499353.2:p.Leu212=
ENST00000667293.2:c.633G>C	ENSP00000499293.2:p.Leu211=
ENST00000676826.2:c.2742G>C	ENSP00000504675.2:p.Leu914=
ENST00000682092.1:n.5094G>C
ENST00000682134.1:n.2736G>C
ENST00000682411.1:n.2905G>C
ENST00000682590.1:n.4997G>C
ENST00000682680.1:n.5011G>C
ENST00000682803.1:c.483G>C	ENSP00000507069.1:p.Leu161=
ENST00000682829.1:n.3138G>C
ENST00000682917.1:n.1338G>C
ENST00000682986.1:n.5227G>C
ENST00000683015.1:c.1580G>C	ENSP00000506815.1:n.1580G>C
ENST00000683632.1:n.5340G>C
ENST00000683932.1:n.6586G>C
ENST00000684284.1:n.3188G>C
ENST00000684466.1:n.1449G>C
ENST00000684644.1:n.5130G>C
ENST00000684761.1:n.1303G>C
ENST00000306090.12:c.714G>C	ENSP00000304472.12:p.Leu238=
ENST00000354359.12:c.813G>C	ENSP00000346328.7:p.Leu271=
ENST00000371085.8:c.810G>C MANE Select	ENSP00000360126.3:p.Leu270=
ENST00000371100.9:c.2739G>C MANE Plus Clinical	ENSP00000360141.3:p.Leu913=
ENST00000656419.1:c.339G>C	ENSP00000499614.1:p.Leu113=
ENST00000657090.1:c.633G>C	ENSP00000499380.1:p.Leu211=
ENST00000667293.1:c.681G>C	ENSP00000499293.1:p.Leu227=
ENST00000265620.11:c.765G>C	ENSP00000265620.7:p.Leu255=
ENST00000306090.11:c.102G>C	ENSP00000304472.11:p.Leu34=
ENST00000313949.11:c.*713G>C	ENSP00000323571.7:n.*713G>C
ENST00000354359.11:c.813G>C	ENSP00000346328.7:p.Leu271=
ENST00000371075.7:c.*716G>C MANE Plus Clinical	ENSP00000360115.3:n.*716G>C
ENST00000371085.7:c.810G>C	ENSP00000360126.3:p.Leu270=
ENST00000371095.7:c.768G>C	ENSP00000360136.3:p.Leu256=
ENST00000371100.8:c.2739G>C	ENSP00000360141.3:p.Leu913=
ENST00000371102.8:c.2697G>C	ENSP00000360143.4:p.Leu899=
ENST00000464624.6:n.3026G>C
ENST00000470512.5:n.884G>C
ENST00000476196.5:n.1103G>C
ENST00000476935.5:n.799G>C
ENST00000477931.5:n.925G>C
ENST00000480232.5:n.829G>C
ENST00000480975.5:n.809G>C
ENST00000481039.5:n.727G>C
ENST00000487862.5:n.1044G>C
ENST00000488546.5:n.669G>C
ENST00000488652.5:n.900G>C
ENST00000492907.5:n.761G>C
ENST00000493958.5:n.533G>C
ENST00000494081.5:n.365G>C
ENST00000496934.5:n.2099G>C
NM_000516.4:c.810G>C	NP_000507.1:p.Leu270=
NM_000516.5:c.810G>C	NP_000507.1:p.Leu270=
NM_001077488.2:c.813G>C	NP_001070956.1:p.Leu271=
NM_001077488.3:c.813G>C	NP_001070956.1:p.Leu271=
NM_001077489.2:c.765G>C	NP_001070957.1:p.Leu255=
NM_001077489.3:c.765G>C	NP_001070957.1:p.Leu255=
NM_001077490.1:c.*671G>C	NP_001070958.1:n.*671G>C
NM_001077490.2:c.*671G>C	NP_001070958.1:n.*671G>C
NM_001309840.1:c.633G>C	NP_001296769.1:p.Leu211=
NM_001309861.1:c.633G>C	NP_001296790.1:p.Leu211=
NM_016592.2:c.*716G>C	NP_057676.1:n.*716G>C
NM_016592.3:c.*716G>C	NP_057676.1:n.*716G>C
NM_080425.2:c.2739G>C	NP_536350.2:p.Leu913=
NM_080425.3:c.2739G>C	NP_536350.2:p.Leu913=
NM_080426.2:c.768G>C	NP_536351.1:p.Leu256=
NM_080426.3:c.768G>C	NP_536351.1:p.Leu256=
NR_003259.1:c.-4294966396G>C
XM_017027812.2:c.2742G>C	XP_016883301.1:p.Leu914=
XM_017027813.2:c.2697G>C	XP_016883302.1:p.Leu899=
XM_017027814.2:c.2694G>C	XP_016883303.1:p.Leu898=
XM_017027815.1:c.669G>C	XP_016883304.1:p.Leu223=
XM_017027816.1:c.588G>C	XP_016883305.1:p.Leu196=
XM_017027817.1:c.588G>C	XP_016883306.1:p.Leu196=
XM_017027818.2:c.588G>C	XP_016883307.1:p.Leu196=
XM_017027819.1:c.588G>C	XP_016883308.1:p.Leu196=
XM_017027820.1:c.588G>C	XP_016883309.1:p.Leu196=
XM_024451872.1:c.714G>C	XP_024307640.1:p.Leu238=
XM_024451873.1:c.633G>C	XP_024307641.1:p.Leu211=
XM_024451874.1:c.633G>C	XP_024307642.1:p.Leu211=
XM_024451875.1:c.633G>C	XP_024307643.1:p.Leu211=
XR_002958471.1:n.1517G>C
NM_000516.6:c.810G>C	NP_000507.1:p.Leu270=
NM_001077488.4:c.813G>C	NP_001070956.1:p.Leu271=
NM_001077489.4:c.765G>C	NP_001070957.1:p.Leu255=
NM_001309840.2:c.633G>C	NP_001296769.1:p.Leu211=
NM_001309861.2:c.633G>C	NP_001296790.1:p.Leu211=
NM_016592.4:c.*716G>C	NP_057676.1:n.*716G>C
NM_080426.4:c.768G>C	NP_536351.1:p.Leu256=
NM_000516.7:c.810G>C MANE Select	NP_000507.1:p.Leu270=
NM_001077488.5:c.813G>C	NP_001070956.1:p.Leu271=
NM_001077490.3:c.*671G>C	NP_001070958.1:n.*671G>C
NM_016592.5:c.*716G>C MANE Plus Clinical	NP_057676.1:n.*716G>C
NM_080425.4:c.2739G>C MANE Plus Clinical	NP_536350.2:p.Leu913=