Canonical Allele Identifier: CA2372495429

Gene: GNAS GNAS-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840604C= , CM000682.2:g.58840604C=	GRCh38
NC_000020.10:g.57415659C= , CM000682.1:g.57415659C=	GRCh37
NC_000020.9:g.56849054C=	NCBI36
NG_016194.1:g.5865C=
NG_021433.1:g.15300G=
NG_016194.2:g.5865C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.498C= (GNAS)	ENSP00000416234.2:p.Leu166=
ENST00000453292.7:c.498C= (GNAS)	ENSP00000392000.2:p.Leu166=
ENST00000419558.6:c.498C= (GNAS)	ENSP00000416234.2:p.Leu166=
ENST00000453292.6:c.498C= (GNAS)	ENSP00000392000.2:p.Leu166=
ENST00000657090.1:c.-39+664C= (GNAS)	ENSP00000499380.1:n.-39+664C=
ENST00000667293.1:c.-27-246C= (GNAS)	ENSP00000499293.1:n.-27-246C=
ENST00000313949.11:c.498C= (GNAS)	ENSP00000323571.7:p.Leu166=
ENST00000371075.7:c.498C= (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Leu166=
ENST00000371098.6:c.498C= (GNAS)	ENSP00000360139.2:p.Leu166=
ENST00000419558.5:c.101C= (GNAS)
ENST00000453292.5:c.261C= (GNAS)	ENSP00000392000.1:p.Leu87=
NM_016592.2:c.498C= (GNAS)	NP_057676.1:p.Leu166=
NM_016592.3:c.498C= (GNAS)	NP_057676.1:p.Leu166=
NR_002785.2:n.819+1333G= (GNAS-AS1)
XM_017027821.1:c.498C= (GNAS)	XP_016883310.1:p.Leu166=
XM_017027822.1:c.498C= (GNAS)	XP_016883311.1:p.Leu166=
XM_024451872.1:c.-240C= (GNAS)	XP_024307640.1:n.-240C=
NM_016592.4:c.498C= (GNAS)	NP_057676.1:p.Leu166=
NM_016592.5:c.498C= (GNAS) MANE Plus Clinical	NP_057676.1:p.Leu166=