Canonical Allele Identifier: CA511087438

Gene: GNAS

Linked Data

• gnomAD v4: 20-58909787-G-A
• MyVariant Identifiers: chr20:g.57484842G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909787G>A , CM000682.2:g.58909787G>A	GRCh38
NC_000020.10:g.57484842G>A , CM000682.1:g.57484842G>A	GRCh37
NC_000020.9:g.56918237G>A	NCBI36
NG_016194.1:g.75048G>A
NG_016194.2:g.75048G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2706G>A	ENSP00000265621.6:p.Lys902=
ENST00000419558.7:c.*680G>A	ENSP00000416234.2:n.*680G>A
ENST00000453292.7:c.1421G>A	ENSP00000392000.2:n.1421G>A
ENST00000462499.6:c.603G>A	ENSP00000499758.2:p.Lys201=
ENST00000464624.7:c.*664G>A	ENSP00000499607.2:n.*664G>A
ENST00000464788.6:c.645G>A	ENSP00000499239.2:p.Lys215=
ENST00000467227.6:c.603G>A	ENSP00000499681.2:p.Lys201=
ENST00000467321.6:c.645G>A	ENSP00000499523.2:p.Lys215=
ENST00000468895.6:c.822G>A	ENSP00000499551.2:p.Lys274=
ENST00000469431.6:c.645G>A	ENSP00000499654.2:p.Lys215=
ENST00000470512.6:c.648G>A	ENSP00000499552.2:p.Lys216=
ENST00000472183.6:c.645G>A	ENSP00000499673.2:p.Lys215=
ENST00000475610.2:n.1328G>A
ENST00000476935.6:c.600G>A	ENSP00000499409.2:p.Lys200=
ENST00000478585.6:c.603G>A	ENSP00000499762.2:p.Lys201=
ENST00000480232.6:c.648G>A	ENSP00000499545.2:p.Lys216=
ENST00000481039.6:c.603G>A	ENSP00000499767.2:p.Lys201=
ENST00000482112.6:c.600G>A	ENSP00000499794.2:p.Lys200=
ENST00000485673.6:c.603G>A	ENSP00000499334.2:p.Lys201=
ENST00000488546.6:c.603G>A	ENSP00000499332.2:p.Lys201=
ENST00000488652.6:c.645G>A	ENSP00000499435.2:p.Lys215=
ENST00000492907.6:c.603G>A	ENSP00000499443.2:p.Lys201=
ENST00000603546.2:c.645G>A	ENSP00000474802.2:p.Lys215=
ENST00000604005.6:c.645G>A	ENSP00000474219.2:p.Lys215=
ENST00000663479.2:c.648G>A	ENSP00000499353.2:p.Lys216=
ENST00000667293.2:c.645G>A	ENSP00000499293.2:p.Lys215=
ENST00000676826.2:c.2754G>A	ENSP00000504675.2:p.Lys918=
ENST00000682092.1:n.5106G>A
ENST00000682134.1:n.2748G>A
ENST00000682411.1:n.2917G>A
ENST00000682590.1:n.5009G>A
ENST00000682680.1:n.5023G>A
ENST00000682803.1:c.495G>A	ENSP00000507069.1:p.Lys165=
ENST00000682829.1:n.3150G>A
ENST00000682917.1:n.1350G>A
ENST00000682986.1:n.5239G>A
ENST00000683015.1:c.1592G>A	ENSP00000506815.1:n.1592G>A
ENST00000683632.1:n.5352G>A
ENST00000683932.1:n.6598G>A
ENST00000684284.1:n.3200G>A
ENST00000684466.1:n.1461G>A
ENST00000684644.1:n.5142G>A
ENST00000684761.1:n.1315G>A
ENST00000306090.12:c.726G>A	ENSP00000304472.12:p.Lys242=
ENST00000354359.12:c.825G>A	ENSP00000346328.7:p.Lys275=
ENST00000371085.8:c.822G>A MANE Select	ENSP00000360126.3:p.Lys274=
ENST00000371100.9:c.2751G>A MANE Plus Clinical	ENSP00000360141.3:p.Lys917=
ENST00000656419.1:c.351G>A	ENSP00000499614.1:p.Lys117=
ENST00000657090.1:c.645G>A	ENSP00000499380.1:p.Lys215=
ENST00000667293.1:c.693G>A	ENSP00000499293.1:p.Lys231=
ENST00000265620.11:c.777G>A	ENSP00000265620.7:p.Lys259=
ENST00000306090.11:c.114G>A	ENSP00000304472.11:p.Lys38=
ENST00000313949.11:c.*725G>A	ENSP00000323571.7:n.*725G>A
ENST00000354359.11:c.825G>A	ENSP00000346328.7:p.Lys275=
ENST00000371075.7:c.*728G>A MANE Plus Clinical	ENSP00000360115.3:n.*728G>A
ENST00000371085.7:c.822G>A	ENSP00000360126.3:p.Lys274=
ENST00000371095.7:c.780G>A	ENSP00000360136.3:p.Lys260=
ENST00000371100.8:c.2751G>A	ENSP00000360141.3:p.Lys917=
ENST00000371102.8:c.2709G>A	ENSP00000360143.4:p.Lys903=
ENST00000464624.6:n.3038G>A
ENST00000470512.5:n.896G>A
ENST00000476196.5:n.1115G>A
ENST00000476935.5:n.811G>A
ENST00000477931.5:n.937G>A
ENST00000480232.5:n.841G>A
ENST00000480975.5:n.821G>A
ENST00000481039.5:n.739G>A
ENST00000487862.5:n.1056G>A
ENST00000488546.5:n.681G>A
ENST00000488652.5:n.912G>A
ENST00000492907.5:n.773G>A
ENST00000494081.5:n.377G>A
ENST00000496934.5:n.2111G>A
NM_000516.4:c.822G>A	NP_000507.1:p.Lys274=
NM_000516.5:c.822G>A	NP_000507.1:p.Lys274=
NM_001077488.2:c.825G>A	NP_001070956.1:p.Lys275=
NM_001077488.3:c.825G>A	NP_001070956.1:p.Lys275=
NM_001077489.2:c.777G>A	NP_001070957.1:p.Lys259=
NM_001077489.3:c.777G>A	NP_001070957.1:p.Lys259=
NM_001077490.1:c.*683G>A	NP_001070958.1:n.*683G>A
NM_001077490.2:c.*683G>A	NP_001070958.1:n.*683G>A
NM_001309840.1:c.645G>A	NP_001296769.1:p.Lys215=
NM_001309861.1:c.645G>A	NP_001296790.1:p.Lys215=
NM_016592.2:c.*728G>A	NP_057676.1:n.*728G>A
NM_016592.3:c.*728G>A	NP_057676.1:n.*728G>A
NM_080425.2:c.2751G>A	NP_536350.2:p.Lys917=
NM_080425.3:c.2751G>A	NP_536350.2:p.Lys917=
NM_080426.2:c.780G>A	NP_536351.1:p.Lys260=
NM_080426.3:c.780G>A	NP_536351.1:p.Lys260=
NR_003259.1:c.-4294966384G>A
XM_017027812.2:c.2754G>A	XP_016883301.1:p.Lys918=
XM_017027813.2:c.2709G>A	XP_016883302.1:p.Lys903=
XM_017027814.2:c.2706G>A	XP_016883303.1:p.Lys902=
XM_017027815.1:c.681G>A	XP_016883304.1:p.Lys227=
XM_017027816.1:c.600G>A	XP_016883305.1:p.Lys200=
XM_017027817.1:c.600G>A	XP_016883306.1:p.Lys200=
XM_017027818.2:c.600G>A	XP_016883307.1:p.Lys200=
XM_017027819.1:c.600G>A	XP_016883308.1:p.Lys200=
XM_017027820.1:c.600G>A	XP_016883309.1:p.Lys200=
XM_024451872.1:c.726G>A	XP_024307640.1:p.Lys242=
XM_024451873.1:c.645G>A	XP_024307641.1:p.Lys215=
XM_024451874.1:c.645G>A	XP_024307642.1:p.Lys215=
XM_024451875.1:c.645G>A	XP_024307643.1:p.Lys215=
XR_002958471.1:n.1529G>A
NM_000516.6:c.822G>A	NP_000507.1:p.Lys274=
NM_001077488.4:c.825G>A	NP_001070956.1:p.Lys275=
NM_001077489.4:c.777G>A	NP_001070957.1:p.Lys259=
NM_001309840.2:c.645G>A	NP_001296769.1:p.Lys215=
NM_001309861.2:c.645G>A	NP_001296790.1:p.Lys215=
NM_016592.4:c.*728G>A	NP_057676.1:n.*728G>A
NM_080426.4:c.780G>A	NP_536351.1:p.Lys260=
NM_000516.7:c.822G>A MANE Select	NP_000507.1:p.Lys274=
NM_001077488.5:c.825G>A	NP_001070956.1:p.Lys275=
NM_001077490.3:c.*683G>A	NP_001070958.1:n.*683G>A
NM_016592.5:c.*728G>A MANE Plus Clinical	NP_057676.1:n.*728G>A
NM_080425.4:c.2751G>A MANE Plus Clinical	NP_536350.2:p.Lys917=