Canonical Allele Identifier: CA409452821

Gene: GNAS

Linked Data

• MyVariant Identifiers: chr20:g.57484854C>A (hg19) ; chr20:g.58909799C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909799C>A , CM000682.2:g.58909799C>A	GRCh38
NC_000020.10:g.57484854C>A , CM000682.1:g.57484854C>A	GRCh37
NC_000020.9:g.56918249C>A	NCBI36
NG_016194.1:g.75060C>A
NG_016194.2:g.75060C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2718C>A	ENSP00000265621.6:p.Asn906Lys
ENST00000419558.7:c.*692C>A	ENSP00000416234.2:n.*692C>A
ENST00000453292.7:c.1433C>A	ENSP00000392000.2:n.1433C>A
ENST00000462499.6:c.615C>A	ENSP00000499758.2:p.Asn205Lys
ENST00000464624.7:c.*676C>A	ENSP00000499607.2:n.*676C>A
ENST00000464788.6:c.657C>A	ENSP00000499239.2:p.Asn219Lys
ENST00000467227.6:c.615C>A	ENSP00000499681.2:p.Asn205Lys
ENST00000467321.6:c.657C>A	ENSP00000499523.2:p.Asn219Lys
ENST00000468895.6:c.834C>A	ENSP00000499551.2:p.Asn278Lys
ENST00000469431.6:c.657C>A	ENSP00000499654.2:p.Asn219Lys
ENST00000470512.6:c.660C>A	ENSP00000499552.2:p.Asn220Lys
ENST00000472183.6:c.657C>A	ENSP00000499673.2:p.Asn219Lys
ENST00000475610.2:n.1340C>A
ENST00000476935.6:c.612C>A	ENSP00000499409.2:p.Asn204Lys
ENST00000478585.6:c.615C>A	ENSP00000499762.2:p.Asn205Lys
ENST00000480232.6:c.660C>A	ENSP00000499545.2:p.Asn220Lys
ENST00000481039.6:c.615C>A	ENSP00000499767.2:p.Asn205Lys
ENST00000482112.6:c.612C>A	ENSP00000499794.2:p.Asn204Lys
ENST00000485673.6:c.615C>A	ENSP00000499334.2:p.Asn205Lys
ENST00000488546.6:c.615C>A	ENSP00000499332.2:p.Asn205Lys
ENST00000488652.6:c.657C>A	ENSP00000499435.2:p.Asn219Lys
ENST00000492907.6:c.615C>A	ENSP00000499443.2:p.Asn205Lys
ENST00000603546.2:c.657C>A	ENSP00000474802.2:p.Asn219Lys
ENST00000604005.6:c.657C>A	ENSP00000474219.2:p.Asn219Lys
ENST00000663479.2:c.660C>A	ENSP00000499353.2:p.Asn220Lys
ENST00000667293.2:c.657C>A	ENSP00000499293.2:p.Asn219Lys
ENST00000676826.2:c.2766C>A	ENSP00000504675.2:p.Asn922Lys
ENST00000682092.1:n.5118C>A
ENST00000682134.1:n.2760C>A
ENST00000682411.1:n.2929C>A
ENST00000682590.1:n.5021C>A
ENST00000682680.1:n.5035C>A
ENST00000682803.1:c.507C>A	ENSP00000507069.1:p.Asn169Lys
ENST00000682829.1:n.3162C>A
ENST00000682917.1:n.1362C>A
ENST00000682986.1:n.5251C>A
ENST00000683015.1:c.1604C>A	ENSP00000506815.1:n.1604C>A
ENST00000683632.1:n.5364C>A
ENST00000683932.1:n.6610C>A
ENST00000684284.1:n.3212C>A
ENST00000684466.1:n.1473C>A
ENST00000684644.1:n.5154C>A
ENST00000684761.1:n.1327C>A
ENST00000306090.12:c.738C>A	ENSP00000304472.12:p.Asn246Lys
ENST00000354359.12:c.837C>A	ENSP00000346328.7:p.Asn279Lys
ENST00000371085.8:c.834C>A MANE Select	ENSP00000360126.3:p.Asn278Lys
ENST00000371100.9:c.2763C>A MANE Plus Clinical	ENSP00000360141.3:p.Asn921Lys
ENST00000656419.1:c.363C>A	ENSP00000499614.1:p.Asn121Lys
ENST00000657090.1:c.657C>A	ENSP00000499380.1:p.Asn219Lys
ENST00000667293.1:c.705C>A	ENSP00000499293.1:p.Asn235Lys
ENST00000265620.11:c.789C>A	ENSP00000265620.7:p.Asn263Lys
ENST00000306090.11:c.126C>A	ENSP00000304472.11:p.Asn42Lys
ENST00000313949.11:c.*737C>A	ENSP00000323571.7:n.*737C>A
ENST00000354359.11:c.837C>A	ENSP00000346328.7:p.Asn279Lys
ENST00000371075.7:c.*740C>A MANE Plus Clinical	ENSP00000360115.3:n.*740C>A
ENST00000371085.7:c.834C>A	ENSP00000360126.3:p.Asn278Lys
ENST00000371095.7:c.792C>A	ENSP00000360136.3:p.Asn264Lys
ENST00000371100.8:c.2763C>A	ENSP00000360141.3:p.Asn921Lys
ENST00000371102.8:c.2721C>A	ENSP00000360143.4:p.Asn907Lys
ENST00000464624.6:n.3050C>A
ENST00000470512.5:n.908C>A
ENST00000476196.5:n.1127C>A
ENST00000476935.5:n.823C>A
ENST00000477931.5:n.949C>A
ENST00000480232.5:n.853C>A
ENST00000480975.5:n.833C>A
ENST00000481039.5:n.751C>A
ENST00000487862.5:n.1068C>A
ENST00000488546.5:n.693C>A
ENST00000488652.5:n.924C>A
ENST00000492907.5:n.785C>A
ENST00000494081.5:n.389C>A
ENST00000496934.5:n.2123C>A
NM_000516.4:c.834C>A	NP_000507.1:p.Asn278Lys
NM_000516.5:c.834C>A	NP_000507.1:p.Asn278Lys
NM_001077488.2:c.837C>A	NP_001070956.1:p.Asn279Lys
NM_001077488.3:c.837C>A	NP_001070956.1:p.Asn279Lys
NM_001077489.2:c.789C>A	NP_001070957.1:p.Asn263Lys
NM_001077489.3:c.789C>A	NP_001070957.1:p.Asn263Lys
NM_001077490.1:c.*695C>A	NP_001070958.1:n.*695C>A
NM_001077490.2:c.*695C>A	NP_001070958.1:n.*695C>A
NM_001309840.1:c.657C>A	NP_001296769.1:p.Asn219Lys
NM_001309861.1:c.657C>A	NP_001296790.1:p.Asn219Lys
NM_016592.2:c.*740C>A	NP_057676.1:n.*740C>A
NM_016592.3:c.*740C>A	NP_057676.1:n.*740C>A
NM_080425.2:c.2763C>A	NP_536350.2:p.Asn921Lys
NM_080425.3:c.2763C>A	NP_536350.2:p.Asn921Lys
NM_080426.2:c.792C>A	NP_536351.1:p.Asn264Lys
NM_080426.3:c.792C>A	NP_536351.1:p.Asn264Lys
NR_003259.1:c.-4294966372C>A
XM_017027812.2:c.2766C>A	XP_016883301.1:p.Asn922Lys
XM_017027813.2:c.2721C>A	XP_016883302.1:p.Asn907Lys
XM_017027814.2:c.2718C>A	XP_016883303.1:p.Asn906Lys
XM_017027815.1:c.693C>A	XP_016883304.1:p.Asn231Lys
XM_017027816.1:c.612C>A	XP_016883305.1:p.Asn204Lys
XM_017027817.1:c.612C>A	XP_016883306.1:p.Asn204Lys
XM_017027818.2:c.612C>A	XP_016883307.1:p.Asn204Lys
XM_017027819.1:c.612C>A	XP_016883308.1:p.Asn204Lys
XM_017027820.1:c.612C>A	XP_016883309.1:p.Asn204Lys
XM_024451872.1:c.738C>A	XP_024307640.1:p.Asn246Lys
XM_024451873.1:c.657C>A	XP_024307641.1:p.Asn219Lys
XM_024451874.1:c.657C>A	XP_024307642.1:p.Asn219Lys
XM_024451875.1:c.657C>A	XP_024307643.1:p.Asn219Lys
XR_002958471.1:n.1541C>A
NM_000516.6:c.834C>A	NP_000507.1:p.Asn278Lys
NM_001077488.4:c.837C>A	NP_001070956.1:p.Asn279Lys
NM_001077489.4:c.789C>A	NP_001070957.1:p.Asn263Lys
NM_001309840.2:c.657C>A	NP_001296769.1:p.Asn219Lys
NM_001309861.2:c.657C>A	NP_001296790.1:p.Asn219Lys
NM_016592.4:c.*740C>A	NP_057676.1:n.*740C>A
NM_080426.4:c.792C>A	NP_536351.1:p.Asn264Lys
NM_000516.7:c.834C>A MANE Select	NP_000507.1:p.Asn278Lys
NM_001077488.5:c.837C>A	NP_001070956.1:p.Asn279Lys
NM_001077490.3:c.*695C>A	NP_001070958.1:n.*695C>A
NM_016592.5:c.*740C>A MANE Plus Clinical	NP_057676.1:n.*740C>A
NM_080425.4:c.2763C>A MANE Plus Clinical	NP_536350.2:p.Asn921Lys