Canonical Allele Identifier: CA409450464
Community Standard Title: NM_000516.7(GNAS):c.364C>G (p.Pro122Ala)
Gene: GNAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58903723C>G , CM000682.2:g.58903723C>G GRCh38
NC_000020.10:g.57478778C>G , CM000682.1:g.57478778C>G GRCh37
NC_000020.9:g.56912173C>G NCBI36
NG_016194.1:g.68984C>G
NG_016194.2:g.68984C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000516.7:c.364C>G MANE Select NP_000507.1:p.Pro122Ala
ENST00000371085.8:c.364C>G MANE Select ENSP00000360126.3:p.Pro122Ala
NM_016592.5:c.*270C>G MANE Plus Clinical NP_057676.1:n.*270C>G
NM_080425.4:c.2293C>G MANE Plus Clinical NP_536350.2:p.Pro765Ala
ENST00000371075.7:c.*270C>G MANE Plus Clinical ENSP00000360115.3:n.*270C>G
ENST00000371100.9:c.2293C>G MANE Plus Clinical ENSP00000360141.3:p.Pro765Ala
NM_000516.4:c.364C>G NP_000507.1:p.Pro122Ala
NM_000516.5:c.364C>G NP_000507.1:p.Pro122Ala
NM_000516.6:c.364C>G NP_000507.1:p.Pro122Ala
NM_001077488.2:c.367C>G NP_001070956.1:p.Pro123Ala
NM_001077488.3:c.367C>G NP_001070956.1:p.Pro123Ala
NM_001077488.4:c.367C>G NP_001070956.1:p.Pro123Ala
NM_001077488.5:c.367C>G NP_001070956.1:p.Pro123Ala
NM_001077489.2:c.319C>G NP_001070957.1:p.Pro107Ala
NM_001077489.3:c.319C>G NP_001070957.1:p.Pro107Ala
NM_001077489.4:c.319C>G NP_001070957.1:p.Pro107Ala
NM_001077490.1:c.*225C>G NP_001070958.1:n.*225C>G
NM_001077490.2:c.*225C>G NP_001070958.1:n.*225C>G
NM_001077490.3:c.*225C>G NP_001070958.1:n.*225C>G
NM_001309840.1:c.187C>G NP_001296769.1:p.Pro63Ala
NM_001309840.2:c.187C>G NP_001296769.1:p.Pro63Ala
NM_001309861.1:c.187C>G NP_001296790.1:p.Pro63Ala
NM_001309861.2:c.187C>G NP_001296790.1:p.Pro63Ala
NM_016592.2:c.*270C>G NP_057676.1:n.*270C>G
NM_016592.3:c.*270C>G NP_057676.1:n.*270C>G
NM_016592.4:c.*270C>G NP_057676.1:n.*270C>G
NM_080425.2:c.2293C>G NP_536350.2:p.Pro765Ala
NM_080425.3:c.2293C>G NP_536350.2:p.Pro765Ala
NM_080426.2:c.322C>G NP_536351.1:p.Pro108Ala
NM_080426.3:c.322C>G NP_536351.1:p.Pro108Ala
NM_080426.4:c.322C>G NP_536351.1:p.Pro108Ala
NR_003259.1:c.-4294966842C>G
ENST00000265620.11:c.319C>G ENSP00000265620.7:p.Pro107Ala
ENST00000306090.11:c.94-6044C>G ENSP00000304472.11:n.94-6044C>G
ENST00000306090.12:c.268C>G ENSP00000304472.12:p.Pro90Ala
ENST00000313949.11:c.*267C>G ENSP00000323571.7:n.*267C>G
ENST00000349036.7:c.415C>G ENSP00000265621.4:p.Pro139Ala
ENST00000349036.8:c.2248C>G ENSP00000265621.5:p.Pro750Ala
ENST00000349036.9:c.2248C>G ENSP00000265621.6:p.Pro750Ala
ENST00000354359.11:c.367C>G ENSP00000346328.7:p.Pro123Ala
ENST00000354359.12:c.367C>G ENSP00000346328.7:p.Pro123Ala
ENST00000371085.7:c.364C>G ENSP00000360126.3:p.Pro122Ala
ENST00000371095.7:c.322C>G ENSP00000360136.3:p.Pro108Ala
ENST00000371100.8:c.2293C>G ENSP00000360141.3:p.Pro765Ala
ENST00000371102.8:c.2251C>G ENSP00000360143.4:p.Pro751Ala
ENST00000419558.5:c.563C>G
ENST00000419558.6:c.*222C>G ENSP00000416234.2:n.*222C>G
ENST00000419558.7:c.*222C>G ENSP00000416234.2:n.*222C>G
ENST00000450130.5:c.407C>G
ENST00000453292.7:c.963C>G ENSP00000392000.2:n.963C>G
ENST00000462499.5:n.441C>G
ENST00000462499.6:c.145C>G ENSP00000499758.2:p.Pro49Ala
ENST00000464624.6:n.2580C>G
ENST00000464624.7:c.*206C>G ENSP00000499607.2:n.*206C>G
ENST00000464788.5:n.292C>G
ENST00000464788.6:c.187C>G ENSP00000499239.2:p.Pro63Ala
ENST00000467227.5:n.305C>G
ENST00000467227.6:c.145C>G ENSP00000499681.2:p.Pro49Ala
ENST00000467321.5:n.379C>G
ENST00000467321.6:c.187C>G ENSP00000499523.2:p.Pro63Ala
ENST00000468895.5:n.233C>G
ENST00000468895.6:c.364C>G ENSP00000499551.2:p.Pro122Ala
ENST00000469431.5:n.481C>G
ENST00000469431.6:c.187C>G ENSP00000499654.2:p.Pro63Ala
ENST00000470512.5:n.438C>G
ENST00000470512.6:c.190C>G ENSP00000499552.2:p.Pro64Ala
ENST00000472183.5:n.616C>G
ENST00000472183.6:c.187C>G ENSP00000499673.2:p.Pro63Ala
ENST00000475610.2:n.870C>G
ENST00000476196.5:n.657C>G
ENST00000476935.5:n.353C>G
ENST00000476935.6:c.142C>G ENSP00000499409.2:p.Pro48Ala
ENST00000477931.5:n.479C>G
ENST00000478585.5:n.377C>G
ENST00000478585.6:c.145C>G ENSP00000499762.2:p.Pro49Ala
ENST00000480232.5:n.383C>G
ENST00000480232.6:c.190C>G ENSP00000499545.2:p.Pro64Ala
ENST00000480975.5:n.363C>G
ENST00000481039.5:n.281C>G
ENST00000481039.6:c.145C>G ENSP00000499767.2:p.Pro49Ala
ENST00000482112.5:n.438C>G
ENST00000482112.6:c.142C>G ENSP00000499794.2:p.Pro48Ala
ENST00000485673.5:n.609C>G
ENST00000485673.6:c.145C>G ENSP00000499334.2:p.Pro49Ala
ENST00000487862.5:n.598C>G
ENST00000487981.5:n.101C>G
ENST00000488546.5:n.223C>G
ENST00000488546.6:c.145C>G ENSP00000499332.2:p.Pro49Ala
ENST00000488652.5:n.454C>G
ENST00000488652.6:c.187C>G ENSP00000499435.2:p.Pro63Ala
ENST00000490374.5:n.482C>G
ENST00000490374.6:n.529C>G
ENST00000492907.5:n.315C>G
ENST00000492907.6:c.145C>G ENSP00000499443.2:p.Pro49Ala
ENST00000494081.5:n.107C>G
ENST00000496934.5:n.1653C>G
ENST00000603546.1:c.187C>G ENSP00000474802.1:p.Pro63Ala
ENST00000603546.2:c.187C>G ENSP00000474802.2:p.Pro63Ala
ENST00000604005.5:c.187C>G ENSP00000474219.1:p.Pro63Ala
ENST00000604005.6:c.187C>G ENSP00000474219.2:p.Pro63Ala
ENST00000657090.1:c.187C>G ENSP00000499380.1:p.Pro63Ala
ENST00000663479.1:c.190C>G ENSP00000499353.1:p.Pro64Ala
ENST00000663479.2:c.190C>G ENSP00000499353.2:p.Pro64Ala
ENST00000667293.1:c.235C>G ENSP00000499293.1:p.Pro79Ala
ENST00000667293.2:c.187C>G ENSP00000499293.2:p.Pro63Ala
ENST00000676826.1:c.2296C>G ENSP00000504675.1:p.Pro766Ala
ENST00000676826.2:c.2296C>G ENSP00000504675.2:p.Pro766Ala
ENST00000682092.1:n.870C>G
ENST00000682134.1:n.2290C>G
ENST00000682411.1:n.868C>G
ENST00000682590.1:n.870C>G
ENST00000682680.1:n.884C>G
ENST00000682803.1:c.37C>G ENSP00000507069.1:p.Pro13Ala
ENST00000682829.1:n.2692C>G
ENST00000682917.1:n.892C>G
ENST00000682986.1:n.870C>G
ENST00000683015.1:c.1134C>G ENSP00000506815.1:n.1134C>G
ENST00000683632.1:n.879C>G
ENST00000683932.1:n.868C>G
ENST00000684284.1:n.2742C>G
ENST00000684466.1:n.870C>G
ENST00000684644.1:n.870C>G
ENST00000684761.1:n.870C>G
XM_017027812.2:c.2296C>G XP_016883301.1:p.Pro766Ala
XM_017027813.2:c.2251C>G XP_016883302.1:p.Pro751Ala
XM_017027814.2:c.2248C>G XP_016883303.1:p.Pro750Ala
XM_017027815.1:c.223C>G XP_016883304.1:p.Pro75Ala
XM_017027816.1:c.142C>G XP_016883305.1:p.Pro48Ala
XM_017027817.1:c.142C>G XP_016883306.1:p.Pro48Ala
XM_017027818.2:c.142C>G XP_016883307.1:p.Pro48Ala
XM_017027819.1:c.142C>G XP_016883308.1:p.Pro48Ala
XM_017027820.1:c.142C>G XP_016883309.1:p.Pro48Ala
XM_017027821.1:c.*267C>G XP_016883310.1:n.*267C>G
XM_024451872.1:c.268C>G XP_024307640.1:p.Pro90Ala
XM_024451873.1:c.187C>G XP_024307641.1:p.Pro63Ala
XM_024451874.1:c.187C>G XP_024307642.1:p.Pro63Ala
XM_024451875.1:c.187C>G XP_024307643.1:p.Pro63Ala
XR_002958471.1:n.1071C>G