Canonical Allele Identifier: CA9926329

Gene: GNAS GNAS-AS1

Linked Data

• dbSNP Id: rs748461622
• ExAC: 20:57415579 G / C
• gnomAD v2: 20-57415579-G-C
• gnomAD v4: 20-58840524-G-C
• MyVariant Identifiers: chr20:g.57415579G>C (hg19) ; chr20:g.58840524G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840524G>C , CM000682.2:g.58840524G>C	GRCh38
NC_000020.10:g.57415579G>C , CM000682.1:g.57415579G>C	GRCh37
NC_000020.9:g.56848974G>C	NCBI36
NG_016194.1:g.5785G>C
NG_021433.1:g.15380C>G
NG_016194.2:g.5785G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.418G>C (GNAS)	ENSP00000416234.2:p.Glu140Gln
ENST00000453292.7:c.418G>C (GNAS)	ENSP00000392000.2:p.Glu140Gln
ENST00000419558.6:c.418G>C (GNAS)	ENSP00000416234.2:p.Glu140Gln
ENST00000453292.6:c.418G>C (GNAS)	ENSP00000392000.2:p.Glu140Gln
ENST00000657090.1:c.-39+584G>C (GNAS)	ENSP00000499380.1:n.-39+584G>C
ENST00000667293.1:c.-27-326G>C (GNAS)	ENSP00000499293.1:n.-27-326G>C
ENST00000313949.11:c.418G>C (GNAS)	ENSP00000323571.7:p.Glu140Gln
ENST00000371075.7:c.418G>C (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Glu140Gln
ENST00000371098.6:c.418G>C (GNAS)	ENSP00000360139.2:p.Glu140Gln
ENST00000419558.5:c.21G>C (GNAS)
ENST00000453292.5:c.181G>C (GNAS)	ENSP00000392000.1:p.Glu61Gln
NM_016592.2:c.418G>C (GNAS)	NP_057676.1:p.Glu140Gln
NM_016592.3:c.418G>C (GNAS)	NP_057676.1:p.Glu140Gln
NR_002785.2:n.819+1413C>G (GNAS-AS1)
XM_017027821.1:c.418G>C (GNAS)	XP_016883310.1:p.Glu140Gln
XM_017027822.1:c.418G>C (GNAS)	XP_016883311.1:p.Glu140Gln
XM_024451872.1:c.-320G>C (GNAS)	XP_024307640.1:n.-320G>C
NM_016592.4:c.418G>C (GNAS)	NP_057676.1:p.Glu140Gln
NM_016592.5:c.418G>C (GNAS) MANE Plus Clinical	NP_057676.1:p.Glu140Gln