Canonical Allele Identifier: CA409452619

Gene: GNAS

Linked Data

• MyVariant Identifiers: chr20:g.57484801A>C (hg19) ; chr20:g.58909746A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909746A>C , CM000682.2:g.58909746A>C	GRCh38
NC_000020.10:g.57484801A>C , CM000682.1:g.57484801A>C	GRCh37
NC_000020.9:g.56918196A>C	NCBI36
NG_016194.1:g.75007A>C
NG_016194.2:g.75007A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2665A>C	ENSP00000265621.6:p.Asn889His
ENST00000419558.7:c.*639A>C	ENSP00000416234.2:n.*639A>C
ENST00000453292.7:c.1380A>C	ENSP00000392000.2:n.1380A>C
ENST00000462499.6:c.562A>C	ENSP00000499758.2:p.Asn188His
ENST00000464624.7:c.*623A>C	ENSP00000499607.2:n.*623A>C
ENST00000464788.6:c.604A>C	ENSP00000499239.2:p.Asn202His
ENST00000467227.6:c.562A>C	ENSP00000499681.2:p.Asn188His
ENST00000467321.6:c.604A>C	ENSP00000499523.2:p.Asn202His
ENST00000468895.6:c.781A>C	ENSP00000499551.2:p.Asn261His
ENST00000469431.6:c.604A>C	ENSP00000499654.2:p.Asn202His
ENST00000470512.6:c.607A>C	ENSP00000499552.2:p.Asn203His
ENST00000472183.6:c.604A>C	ENSP00000499673.2:p.Asn202His
ENST00000475610.2:n.1287A>C
ENST00000476935.6:c.559A>C	ENSP00000499409.2:p.Asn187His
ENST00000478585.6:c.562A>C	ENSP00000499762.2:p.Asn188His
ENST00000480232.6:c.607A>C	ENSP00000499545.2:p.Asn203His
ENST00000481039.6:c.562A>C	ENSP00000499767.2:p.Asn188His
ENST00000482112.6:c.559A>C	ENSP00000499794.2:p.Asn187His
ENST00000485673.6:c.562A>C	ENSP00000499334.2:p.Asn188His
ENST00000488546.6:c.562A>C	ENSP00000499332.2:p.Asn188His
ENST00000488652.6:c.604A>C	ENSP00000499435.2:p.Asn202His
ENST00000492907.6:c.562A>C	ENSP00000499443.2:p.Asn188His
ENST00000603546.2:c.604A>C	ENSP00000474802.2:p.Asn202His
ENST00000604005.6:c.604A>C	ENSP00000474219.2:p.Asn202His
ENST00000663479.2:c.607A>C	ENSP00000499353.2:p.Asn203His
ENST00000667293.2:c.604A>C	ENSP00000499293.2:p.Asn202His
ENST00000676826.2:c.2713A>C	ENSP00000504675.2:p.Asn905His
ENST00000682092.1:n.5065A>C
ENST00000682134.1:n.2707A>C
ENST00000682411.1:n.2876A>C
ENST00000682590.1:n.4968A>C
ENST00000682680.1:n.4982A>C
ENST00000682803.1:c.454A>C	ENSP00000507069.1:p.Asn152His
ENST00000682829.1:n.3109A>C
ENST00000682917.1:n.1309A>C
ENST00000682986.1:n.5198A>C
ENST00000683015.1:c.1551A>C	ENSP00000506815.1:n.1551A>C
ENST00000683632.1:n.5311A>C
ENST00000683932.1:n.6557A>C
ENST00000684284.1:n.3159A>C
ENST00000684466.1:n.1420A>C
ENST00000684644.1:n.5101A>C
ENST00000684761.1:n.1274A>C
ENST00000306090.12:c.685A>C	ENSP00000304472.12:p.Asn229His
ENST00000354359.12:c.784A>C	ENSP00000346328.7:p.Asn262His
ENST00000371085.8:c.781A>C MANE Select	ENSP00000360126.3:p.Asn261His
ENST00000371100.9:c.2710A>C MANE Plus Clinical	ENSP00000360141.3:p.Asn904His
ENST00000656419.1:c.310A>C	ENSP00000499614.1:p.Asn104His
ENST00000657090.1:c.604A>C	ENSP00000499380.1:p.Asn202His
ENST00000667293.1:c.652A>C	ENSP00000499293.1:p.Asn218His
ENST00000265620.11:c.736A>C	ENSP00000265620.7:p.Asn246His
ENST00000306090.11:c.94-21A>C	ENSP00000304472.11:n.94-21A>C
ENST00000313949.11:c.*684A>C	ENSP00000323571.7:n.*684A>C
ENST00000354359.11:c.784A>C	ENSP00000346328.7:p.Asn262His
ENST00000371075.7:c.*687A>C MANE Plus Clinical	ENSP00000360115.3:n.*687A>C
ENST00000371085.7:c.781A>C	ENSP00000360126.3:p.Asn261His
ENST00000371095.7:c.739A>C	ENSP00000360136.3:p.Asn247His
ENST00000371100.8:c.2710A>C	ENSP00000360141.3:p.Asn904His
ENST00000371102.8:c.2668A>C	ENSP00000360143.4:p.Asn890His
ENST00000464624.6:n.2997A>C
ENST00000470512.5:n.855A>C
ENST00000476196.5:n.1074A>C
ENST00000476935.5:n.770A>C
ENST00000477931.5:n.896A>C
ENST00000480232.5:n.800A>C
ENST00000480975.5:n.780A>C
ENST00000481039.5:n.698A>C
ENST00000487862.5:n.1015A>C
ENST00000488546.5:n.640A>C
ENST00000488652.5:n.871A>C
ENST00000492907.5:n.732A>C
ENST00000493958.5:n.504A>C
ENST00000494081.5:n.336A>C
ENST00000496934.5:n.2070A>C
NM_000516.4:c.781A>C	NP_000507.1:p.Asn261His
NM_000516.5:c.781A>C	NP_000507.1:p.Asn261His
NM_001077488.2:c.784A>C	NP_001070956.1:p.Asn262His
NM_001077488.3:c.784A>C	NP_001070956.1:p.Asn262His
NM_001077489.2:c.736A>C	NP_001070957.1:p.Asn246His
NM_001077489.3:c.736A>C	NP_001070957.1:p.Asn246His
NM_001077490.1:c.*642A>C	NP_001070958.1:n.*642A>C
NM_001077490.2:c.*642A>C	NP_001070958.1:n.*642A>C
NM_001309840.1:c.604A>C	NP_001296769.1:p.Asn202His
NM_001309861.1:c.604A>C	NP_001296790.1:p.Asn202His
NM_016592.2:c.*687A>C	NP_057676.1:n.*687A>C
NM_016592.3:c.*687A>C	NP_057676.1:n.*687A>C
NM_080425.2:c.2710A>C	NP_536350.2:p.Asn904His
NM_080425.3:c.2710A>C	NP_536350.2:p.Asn904His
NM_080426.2:c.739A>C	NP_536351.1:p.Asn247His
NM_080426.3:c.739A>C	NP_536351.1:p.Asn247His
NR_003259.1:c.-4294966425A>C
XM_017027812.2:c.2713A>C	XP_016883301.1:p.Asn905His
XM_017027813.2:c.2668A>C	XP_016883302.1:p.Asn890His
XM_017027814.2:c.2665A>C	XP_016883303.1:p.Asn889His
XM_017027815.1:c.640A>C	XP_016883304.1:p.Asn214His
XM_017027816.1:c.559A>C	XP_016883305.1:p.Asn187His
XM_017027817.1:c.559A>C	XP_016883306.1:p.Asn187His
XM_017027818.2:c.559A>C	XP_016883307.1:p.Asn187His
XM_017027819.1:c.559A>C	XP_016883308.1:p.Asn187His
XM_017027820.1:c.559A>C	XP_016883309.1:p.Asn187His
XM_024451872.1:c.685A>C	XP_024307640.1:p.Asn229His
XM_024451873.1:c.604A>C	XP_024307641.1:p.Asn202His
XM_024451874.1:c.604A>C	XP_024307642.1:p.Asn202His
XM_024451875.1:c.604A>C	XP_024307643.1:p.Asn202His
XR_002958471.1:n.1488A>C
NM_000516.6:c.781A>C	NP_000507.1:p.Asn261His
NM_001077488.4:c.784A>C	NP_001070956.1:p.Asn262His
NM_001077489.4:c.736A>C	NP_001070957.1:p.Asn246His
NM_001309840.2:c.604A>C	NP_001296769.1:p.Asn202His
NM_001309861.2:c.604A>C	NP_001296790.1:p.Asn202His
NM_016592.4:c.*687A>C	NP_057676.1:n.*687A>C
NM_080426.4:c.739A>C	NP_536351.1:p.Asn247His
NM_000516.7:c.781A>C MANE Select	NP_000507.1:p.Asn261His
NM_001077488.5:c.784A>C	NP_001070956.1:p.Asn262His
NM_001077490.3:c.*642A>C	NP_001070958.1:n.*642A>C
NM_016592.5:c.*687A>C MANE Plus Clinical	NP_057676.1:n.*687A>C
NM_080425.4:c.2710A>C MANE Plus Clinical	NP_536350.2:p.Asn904His