Canonical Allele Identifier: CA2372495432

Gene: GNAS GNAS-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840608T= , CM000682.2:g.58840608T=	GRCh38
NC_000020.10:g.57415663T= , CM000682.1:g.57415663T=	GRCh37
NC_000020.9:g.56849058T=	NCBI36
NG_016194.1:g.5869T=
NG_021433.1:g.15296A=
NG_016194.2:g.5869T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.502T= (GNAS)	ENSP00000416234.2:p.Leu168=
ENST00000453292.7:c.502T= (GNAS)	ENSP00000392000.2:p.Leu168=
ENST00000419558.6:c.502T= (GNAS)	ENSP00000416234.2:p.Leu168=
ENST00000453292.6:c.502T= (GNAS)	ENSP00000392000.2:p.Leu168=
ENST00000657090.1:c.-39+668T= (GNAS)	ENSP00000499380.1:n.-39+668T=
ENST00000667293.1:c.-27-242T= (GNAS)	ENSP00000499293.1:n.-27-242T=
ENST00000313949.11:c.502T= (GNAS)	ENSP00000323571.7:p.Leu168=
ENST00000371075.7:c.502T= (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Leu168=
ENST00000371098.6:c.502T= (GNAS)	ENSP00000360139.2:p.Leu168=
ENST00000419558.5:c.105T= (GNAS)
ENST00000453292.5:c.265T= (GNAS)	ENSP00000392000.1:p.Leu89=
NM_016592.2:c.502T= (GNAS)	NP_057676.1:p.Leu168=
NM_016592.3:c.502T= (GNAS)	NP_057676.1:p.Leu168=
NR_002785.2:n.819+1329A= (GNAS-AS1)
XM_017027821.1:c.502T= (GNAS)	XP_016883310.1:p.Leu168=
XM_017027822.1:c.502T= (GNAS)	XP_016883311.1:p.Leu168=
XM_024451872.1:c.-236T= (GNAS)	XP_024307640.1:n.-236T=
NM_016592.4:c.502T= (GNAS)	NP_057676.1:p.Leu168=
NM_016592.5:c.502T= (GNAS) MANE Plus Clinical	NP_057676.1:p.Leu168=