Canonical Allele Identifier: CA409452540

Gene: GNAS

Linked Data

• MyVariant Identifiers: chr20:g.57484779C>A (hg19) ; chr20:g.58909724C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909724C>A , CM000682.2:g.58909724C>A	GRCh38
NC_000020.10:g.57484779C>A , CM000682.1:g.57484779C>A	GRCh37
NC_000020.9:g.56918174C>A	NCBI36
NG_016194.1:g.74985C>A
NG_016194.2:g.74985C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2643C>A	ENSP00000265621.6:p.Tyr881Ter
ENST00000419558.7:c.*617C>A	ENSP00000416234.2:n.*617C>A
ENST00000453292.7:c.1358C>A	ENSP00000392000.2:n.1358C>A
ENST00000462499.6:c.540C>A	ENSP00000499758.2:p.Tyr180Ter
ENST00000464624.7:c.*601C>A	ENSP00000499607.2:n.*601C>A
ENST00000464788.6:c.582C>A	ENSP00000499239.2:p.Tyr194Ter
ENST00000467227.6:c.540C>A	ENSP00000499681.2:p.Tyr180Ter
ENST00000467321.6:c.582C>A	ENSP00000499523.2:p.Tyr194Ter
ENST00000468895.6:c.759C>A	ENSP00000499551.2:p.Tyr253Ter
ENST00000469431.6:c.582C>A	ENSP00000499654.2:p.Tyr194Ter
ENST00000470512.6:c.585C>A	ENSP00000499552.2:p.Tyr195Ter
ENST00000472183.6:c.582C>A	ENSP00000499673.2:p.Tyr194Ter
ENST00000475610.2:n.1265C>A
ENST00000476935.6:c.537C>A	ENSP00000499409.2:p.Tyr179Ter
ENST00000478585.6:c.540C>A	ENSP00000499762.2:p.Tyr180Ter
ENST00000480232.6:c.585C>A	ENSP00000499545.2:p.Tyr195Ter
ENST00000481039.6:c.540C>A	ENSP00000499767.2:p.Tyr180Ter
ENST00000482112.6:c.537C>A	ENSP00000499794.2:p.Tyr179Ter
ENST00000485673.6:c.540C>A	ENSP00000499334.2:p.Tyr180Ter
ENST00000488546.6:c.540C>A	ENSP00000499332.2:p.Tyr180Ter
ENST00000488652.6:c.582C>A	ENSP00000499435.2:p.Tyr194Ter
ENST00000492907.6:c.540C>A	ENSP00000499443.2:p.Tyr180Ter
ENST00000603546.2:c.582C>A	ENSP00000474802.2:p.Tyr194Ter
ENST00000604005.6:c.582C>A	ENSP00000474219.2:p.Tyr194Ter
ENST00000663479.2:c.585C>A	ENSP00000499353.2:p.Tyr195Ter
ENST00000667293.2:c.582C>A	ENSP00000499293.2:p.Tyr194Ter
ENST00000676826.2:c.2691C>A	ENSP00000504675.2:p.Tyr897Ter
ENST00000682092.1:n.5043C>A
ENST00000682134.1:n.2685C>A
ENST00000682411.1:n.2854C>A
ENST00000682590.1:n.4946C>A
ENST00000682680.1:n.4960C>A
ENST00000682803.1:c.432C>A	ENSP00000507069.1:p.Tyr144Ter
ENST00000682829.1:n.3087C>A
ENST00000682917.1:n.1287C>A
ENST00000682986.1:n.5176C>A
ENST00000683015.1:c.1529C>A	ENSP00000506815.1:n.1529C>A
ENST00000683632.1:n.5289C>A
ENST00000683932.1:n.6535C>A
ENST00000684284.1:n.3137C>A
ENST00000684466.1:n.1398C>A
ENST00000684644.1:n.5079C>A
ENST00000684761.1:n.1252C>A
ENST00000306090.12:c.663C>A	ENSP00000304472.12:p.Tyr221Ter
ENST00000354359.12:c.762C>A	ENSP00000346328.7:p.Tyr254Ter
ENST00000371085.8:c.759C>A MANE Select	ENSP00000360126.3:p.Tyr253Ter
ENST00000371100.9:c.2688C>A MANE Plus Clinical	ENSP00000360141.3:p.Tyr896Ter
ENST00000656419.1:c.288C>A	ENSP00000499614.1:p.Tyr96Ter
ENST00000657090.1:c.582C>A	ENSP00000499380.1:p.Tyr194Ter
ENST00000667293.1:c.630C>A	ENSP00000499293.1:p.Tyr210Ter
ENST00000265620.11:c.714C>A	ENSP00000265620.7:p.Tyr238Ter
ENST00000306090.11:c.94-43C>A	ENSP00000304472.11:n.94-43C>A
ENST00000313949.11:c.*662C>A	ENSP00000323571.7:n.*662C>A
ENST00000354359.11:c.762C>A	ENSP00000346328.7:p.Tyr254Ter
ENST00000371075.7:c.*665C>A MANE Plus Clinical	ENSP00000360115.3:n.*665C>A
ENST00000371085.7:c.759C>A	ENSP00000360126.3:p.Tyr253Ter
ENST00000371095.7:c.717C>A	ENSP00000360136.3:p.Tyr239Ter
ENST00000371100.8:c.2688C>A	ENSP00000360141.3:p.Tyr896Ter
ENST00000371102.8:c.2646C>A	ENSP00000360143.4:p.Tyr882Ter
ENST00000464624.6:n.2975C>A
ENST00000470512.5:n.833C>A
ENST00000476196.5:n.1052C>A
ENST00000476935.5:n.748C>A
ENST00000477931.5:n.874C>A
ENST00000480232.5:n.778C>A
ENST00000480975.5:n.758C>A
ENST00000481039.5:n.676C>A
ENST00000487862.5:n.993C>A
ENST00000488546.5:n.618C>A
ENST00000488652.5:n.849C>A
ENST00000492907.5:n.710C>A
ENST00000493958.5:n.482C>A
ENST00000494081.5:n.314C>A
ENST00000496934.5:n.2048C>A
NM_000516.4:c.759C>A	NP_000507.1:p.Tyr253Ter
NM_000516.5:c.759C>A	NP_000507.1:p.Tyr253Ter
NM_001077488.2:c.762C>A	NP_001070956.1:p.Tyr254Ter
NM_001077488.3:c.762C>A	NP_001070956.1:p.Tyr254Ter
NM_001077489.2:c.714C>A	NP_001070957.1:p.Tyr238Ter
NM_001077489.3:c.714C>A	NP_001070957.1:p.Tyr238Ter
NM_001077490.1:c.*620C>A	NP_001070958.1:n.*620C>A
NM_001077490.2:c.*620C>A	NP_001070958.1:n.*620C>A
NM_001309840.1:c.582C>A	NP_001296769.1:p.Tyr194Ter
NM_001309861.1:c.582C>A	NP_001296790.1:p.Tyr194Ter
NM_016592.2:c.*665C>A	NP_057676.1:n.*665C>A
NM_016592.3:c.*665C>A	NP_057676.1:n.*665C>A
NM_080425.2:c.2688C>A	NP_536350.2:p.Tyr896Ter
NM_080425.3:c.2688C>A	NP_536350.2:p.Tyr896Ter
NM_080426.2:c.717C>A	NP_536351.1:p.Tyr239Ter
NM_080426.3:c.717C>A	NP_536351.1:p.Tyr239Ter
NR_003259.1:c.-4294966447C>A
XM_017027812.2:c.2691C>A	XP_016883301.1:p.Tyr897Ter
XM_017027813.2:c.2646C>A	XP_016883302.1:p.Tyr882Ter
XM_017027814.2:c.2643C>A	XP_016883303.1:p.Tyr881Ter
XM_017027815.1:c.618C>A	XP_016883304.1:p.Tyr206Ter
XM_017027816.1:c.537C>A	XP_016883305.1:p.Tyr179Ter
XM_017027817.1:c.537C>A	XP_016883306.1:p.Tyr179Ter
XM_017027818.2:c.537C>A	XP_016883307.1:p.Tyr179Ter
XM_017027819.1:c.537C>A	XP_016883308.1:p.Tyr179Ter
XM_017027820.1:c.537C>A	XP_016883309.1:p.Tyr179Ter
XM_024451872.1:c.663C>A	XP_024307640.1:p.Tyr221Ter
XM_024451873.1:c.582C>A	XP_024307641.1:p.Tyr194Ter
XM_024451874.1:c.582C>A	XP_024307642.1:p.Tyr194Ter
XM_024451875.1:c.582C>A	XP_024307643.1:p.Tyr194Ter
XR_002958471.1:n.1466C>A
NM_000516.6:c.759C>A	NP_000507.1:p.Tyr253Ter
NM_001077488.4:c.762C>A	NP_001070956.1:p.Tyr254Ter
NM_001077489.4:c.714C>A	NP_001070957.1:p.Tyr238Ter
NM_001309840.2:c.582C>A	NP_001296769.1:p.Tyr194Ter
NM_001309861.2:c.582C>A	NP_001296790.1:p.Tyr194Ter
NM_016592.4:c.*665C>A	NP_057676.1:n.*665C>A
NM_080426.4:c.717C>A	NP_536351.1:p.Tyr239Ter
NM_000516.7:c.759C>A MANE Select	NP_000507.1:p.Tyr253Ter
NM_001077488.5:c.762C>A	NP_001070956.1:p.Tyr254Ter
NM_001077490.3:c.*620C>A	NP_001070958.1:n.*620C>A
NM_016592.5:c.*665C>A MANE Plus Clinical	NP_057676.1:n.*665C>A
NM_080425.4:c.2688C>A MANE Plus Clinical	NP_536350.2:p.Tyr896Ter