Canonical Allele Identifier: CA9927051
Gene: GNAS HGNC NCBI

Linked Data

dbSNP Id: rs746959226
ExAC: 20:57478690 G / C
gnomAD v2: 20-57478690-G-C
gnomAD v3: 20-58903635-G-C
gnomAD v4: 20-58903635-G-C
MyVariant Identifiers: chr20:g.57478690G>C (hg19) chr20:g.58903635G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58903635G>C , CM000682.2:g.58903635G>C GRCh38
NC_000020.10:g.57478690G>C , CM000682.1:g.57478690G>C GRCh37
NC_000020.9:g.56912085G>C NCBI36
NG_016194.1:g.68896G>C
NG_016194.2:g.68896G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2197-37G>C ENSP00000265621.6:n.2197-37G>C
ENST00000419558.7:c.*171-37G>C ENSP00000416234.2:n.*171-37G>C
ENST00000453292.7:c.912-37G>C ENSP00000392000.2:n.912-37G>C
ENST00000462499.6:c.94-37G>C ENSP00000499758.2:n.94-37G>C
ENST00000464624.7:c.*155-37G>C ENSP00000499607.2:n.*155-37G>C
ENST00000464788.6:c.136-37G>C ENSP00000499239.2:n.136-37G>C
ENST00000467227.6:c.94-37G>C ENSP00000499681.2:n.94-37G>C
ENST00000467321.6:c.136-37G>C ENSP00000499523.2:n.136-37G>C
ENST00000468895.6:c.313-37G>C ENSP00000499551.2:n.313-37G>C
ENST00000469431.6:c.136-37G>C ENSP00000499654.2:n.136-37G>C
ENST00000470512.6:c.139-37G>C ENSP00000499552.2:n.139-37G>C
ENST00000472183.6:c.136-37G>C ENSP00000499673.2:n.136-37G>C
ENST00000475610.2:n.819-37G>C
ENST00000476935.6:c.91-37G>C ENSP00000499409.2:n.91-37G>C
ENST00000478585.6:c.94-37G>C ENSP00000499762.2:n.94-37G>C
ENST00000480232.6:c.139-37G>C ENSP00000499545.2:n.139-37G>C
ENST00000481039.6:c.94-37G>C ENSP00000499767.2:n.94-37G>C
ENST00000482112.6:c.91-37G>C ENSP00000499794.2:n.91-37G>C
ENST00000485673.6:c.94-37G>C ENSP00000499334.2:n.94-37G>C
ENST00000488546.6:c.94-37G>C ENSP00000499332.2:n.94-37G>C
ENST00000488652.6:c.136-37G>C ENSP00000499435.2:n.136-37G>C
ENST00000492907.6:c.94-37G>C ENSP00000499443.2:n.94-37G>C
ENST00000603546.2:c.136-37G>C ENSP00000474802.2:n.136-37G>C
ENST00000604005.6:c.136-37G>C ENSP00000474219.2:n.136-37G>C
ENST00000663479.2:c.139-37G>C ENSP00000499353.2:n.139-37G>C
ENST00000667293.2:c.136-37G>C ENSP00000499293.2:n.136-37G>C
ENST00000676826.2:c.2245-37G>C ENSP00000504675.2:n.2245-37G>C
ENST00000682092.1:n.819-37G>C
ENST00000682134.1:n.2239-37G>C
ENST00000682411.1:n.817-37G>C
ENST00000682590.1:n.819-37G>C
ENST00000682680.1:n.796G>C
ENST00000682803.1:c.-15-37G>C ENSP00000507069.1:n.-15-37G>C
ENST00000682829.1:n.2641-37G>C
ENST00000682917.1:n.804G>C
ENST00000682986.1:n.819-37G>C
ENST00000683015.1:c.1083-37G>C ENSP00000506815.1:n.1083-37G>C
ENST00000683632.1:n.828-37G>C
ENST00000683932.1:n.817-37G>C
ENST00000684284.1:n.2691-37G>C
ENST00000684466.1:n.819-37G>C
ENST00000684644.1:n.819-37G>C
ENST00000684761.1:n.819-37G>C
ENST00000306090.12:c.217-37G>C ENSP00000304472.12:n.217-37G>C
ENST00000349036.8:c.2197-37G>C ENSP00000265621.5:n.2197-37G>C
ENST00000354359.12:c.316-37G>C ENSP00000346328.7:n.316-37G>C
ENST00000371085.8:c.313-37G>C MANE Select ENSP00000360126.3:n.313-37G>C
ENST00000371100.9:c.2242-37G>C MANE Plus Clinical ENSP00000360141.3:n.2242-37G>C
ENST00000419558.6:c.*171-37G>C ENSP00000416234.2:n.*171-37G>C
ENST00000490374.6:n.478-37G>C
ENST00000657090.1:c.136-37G>C ENSP00000499380.1:n.136-37G>C
ENST00000663479.1:c.139-37G>C ENSP00000499353.1:n.139-37G>C
ENST00000667293.1:c.184-37G>C ENSP00000499293.1:n.184-37G>C
ENST00000676826.1:c.2245-37G>C ENSP00000504675.1:n.2245-37G>C
ENST00000265620.11:c.268-37G>C ENSP00000265620.7:n.268-37G>C
ENST00000306090.11:c.94-6132G>C ENSP00000304472.11:n.94-6132G>C
ENST00000313949.11:c.*216-37G>C ENSP00000323571.7:n.*216-37G>C
ENST00000349036.7:c.364-37G>C ENSP00000265621.4:n.364-37G>C
ENST00000354359.11:c.316-37G>C ENSP00000346328.7:n.316-37G>C
ENST00000371075.7:c.*219-37G>C MANE Plus Clinical ENSP00000360115.3:n.*219-37G>C
ENST00000371085.7:c.313-37G>C ENSP00000360126.3:n.313-37G>C
ENST00000371095.7:c.271-37G>C ENSP00000360136.3:n.271-37G>C
ENST00000371100.8:c.2242-37G>C ENSP00000360141.3:n.2242-37G>C
ENST00000371102.8:c.2200-37G>C ENSP00000360143.4:n.2200-37G>C
ENST00000419558.5:c.512-37G>C
ENST00000450130.5:c.356-37G>C
ENST00000462499.5:n.390-37G>C
ENST00000464624.6:n.2529-37G>C
ENST00000464788.5:n.241-37G>C
ENST00000467227.5:n.254-37G>C
ENST00000467321.5:n.328-37G>C
ENST00000468895.5:n.182-37G>C
ENST00000469431.5:n.430-37G>C
ENST00000470512.5:n.387-37G>C
ENST00000472183.5:n.565-37G>C
ENST00000476196.5:n.606-37G>C
ENST00000476935.5:n.302-37G>C
ENST00000477931.5:n.428-37G>C
ENST00000478585.5:n.326-37G>C
ENST00000480232.5:n.332-37G>C
ENST00000480975.5:n.312-37G>C
ENST00000481039.5:n.230-37G>C
ENST00000482112.5:n.387-37G>C
ENST00000485673.5:n.558-37G>C
ENST00000487862.5:n.547-37G>C
ENST00000487981.5:n.50-37G>C
ENST00000488546.5:n.172-37G>C
ENST00000488652.5:n.403-37G>C
ENST00000490374.5:n.431-37G>C
ENST00000492907.5:n.264-37G>C
ENST00000494081.5:n.56-37G>C
ENST00000496934.5:n.1602-37G>C
ENST00000603546.1:c.136-37G>C ENSP00000474802.1:n.136-37G>C
ENST00000604005.5:c.136-37G>C ENSP00000474219.1:n.136-37G>C
NM_000516.4:c.313-37G>C NP_000507.1:n.313-37G>C
NM_000516.5:c.313-37G>C NP_000507.1:n.313-37G>C
NM_001077488.2:c.316-37G>C NP_001070956.1:n.316-37G>C
NM_001077488.3:c.316-37G>C NP_001070956.1:n.316-37G>C
NM_001077489.2:c.268-37G>C NP_001070957.1:n.268-37G>C
NM_001077489.3:c.268-37G>C NP_001070957.1:n.268-37G>C
NM_001077490.1:c.*174-37G>C NP_001070958.1:n.*174-37G>C
NM_001077490.2:c.*174-37G>C NP_001070958.1:n.*174-37G>C
NM_001309840.1:c.136-37G>C NP_001296769.1:n.136-37G>C
NM_001309861.1:c.136-37G>C NP_001296790.1:n.136-37G>C
NM_016592.2:c.*219-37G>C NP_057676.1:n.*219-37G>C
NM_016592.3:c.*219-37G>C NP_057676.1:n.*219-37G>C
NM_080425.2:c.2242-37G>C NP_536350.2:n.2242-37G>C
NM_080425.3:c.2242-37G>C NP_536350.2:n.2242-37G>C
NM_080426.2:c.271-37G>C NP_536351.1:n.271-37G>C
NM_080426.3:c.271-37G>C NP_536351.1:n.271-37G>C
NR_003259.1:c.-4294966893-37G>C
XM_017027812.2:c.2245-37G>C XP_016883301.1:n.2245-37G>C
XM_017027813.2:c.2200-37G>C XP_016883302.1:n.2200-37G>C
XM_017027814.2:c.2197-37G>C XP_016883303.1:n.2197-37G>C
XM_017027815.1:c.172-37G>C XP_016883304.1:n.172-37G>C
XM_017027816.1:c.91-37G>C XP_016883305.1:n.91-37G>C
XM_017027817.1:c.91-37G>C XP_016883306.1:n.91-37G>C
XM_017027818.2:c.91-37G>C XP_016883307.1:n.91-37G>C
XM_017027819.1:c.91-37G>C XP_016883308.1:n.91-37G>C
XM_017027820.1:c.91-37G>C XP_016883309.1:n.91-37G>C
XM_017027821.1:c.*216-37G>C XP_016883310.1:n.*216-37G>C
XM_017027822.1:c.*171-37G>C XP_016883311.1:n.*171-37G>C
XM_024451872.1:c.217-37G>C XP_024307640.1:n.217-37G>C
XM_024451873.1:c.136-37G>C XP_024307641.1:n.136-37G>C
XM_024451874.1:c.136-37G>C XP_024307642.1:n.136-37G>C
XM_024451875.1:c.136-37G>C XP_024307643.1:n.136-37G>C
XR_002958471.1:n.1020-37G>C
NM_000516.6:c.313-37G>C NP_000507.1:n.313-37G>C
NM_001077488.4:c.316-37G>C NP_001070956.1:n.316-37G>C
NM_001077489.4:c.268-37G>C NP_001070957.1:n.268-37G>C
NM_001309840.2:c.136-37G>C NP_001296769.1:n.136-37G>C
NM_001309861.2:c.136-37G>C NP_001296790.1:n.136-37G>C
NM_016592.4:c.*219-37G>C NP_057676.1:n.*219-37G>C
NM_080426.4:c.271-37G>C NP_536351.1:n.271-37G>C
NM_000516.7:c.313-37G>C MANE Select NP_000507.1:n.313-37G>C
NM_001077488.5:c.316-37G>C NP_001070956.1:n.316-37G>C
NM_001077490.3:c.*174-37G>C NP_001070958.1:n.*174-37G>C
NM_016592.5:c.*219-37G>C MANE Plus Clinical NP_057676.1:n.*219-37G>C
NM_080425.4:c.2242-37G>C MANE Plus Clinical NP_536350.2:n.2242-37G>C
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