Canonical Allele Identifier: CA409452888

Gene: GNAS GNAS-AS1

Linked Data

• MyVariant Identifiers: chr20:g.57415751A>C (hg19) ; chr20:g.58840696A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840696A>C , CM000682.2:g.58840696A>C	GRCh38
NC_000020.10:g.57415751A>C , CM000682.1:g.57415751A>C	GRCh37
NC_000020.9:g.56849146A>C	NCBI36
NG_016194.1:g.5957A>C
NG_021433.1:g.15208T>G
NG_016194.2:g.5957A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.590A>C (GNAS)	ENSP00000416234.2:p.Glu197Ala
ENST00000453292.7:c.590A>C (GNAS)	ENSP00000392000.2:p.Glu197Ala
ENST00000419558.6:c.590A>C (GNAS)	ENSP00000416234.2:p.Glu197Ala
ENST00000453292.6:c.590A>C (GNAS)	ENSP00000392000.2:p.Glu197Ala
ENST00000657090.1:c.-39+756A>C (GNAS)	ENSP00000499380.1:n.-39+756A>C
ENST00000667293.1:c.-27-154A>C (GNAS)	ENSP00000499293.1:n.-27-154A>C
ENST00000313949.11:c.590A>C (GNAS)	ENSP00000323571.7:p.Glu197Ala
ENST00000371075.7:c.590A>C (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Glu197Ala
ENST00000371098.6:c.590A>C (GNAS)	ENSP00000360139.2:p.Glu197Ala
ENST00000419558.5:c.193A>C (GNAS)
ENST00000453292.5:c.353A>C (GNAS)	ENSP00000392000.1:p.Glu118Ala
NM_016592.2:c.590A>C (GNAS)	NP_057676.1:p.Glu197Ala
NM_016592.3:c.590A>C (GNAS)	NP_057676.1:p.Glu197Ala
NR_002785.2:n.819+1241T>G (GNAS-AS1)
XM_017027821.1:c.590A>C (GNAS)	XP_016883310.1:p.Glu197Ala
XM_017027822.1:c.590A>C (GNAS)	XP_016883311.1:p.Glu197Ala
XM_024451872.1:c.-148A>C (GNAS)	XP_024307640.1:n.-148A>C
NM_016592.4:c.590A>C (GNAS)	NP_057676.1:p.Glu197Ala
NM_016592.5:c.590A>C (GNAS) MANE Plus Clinical	NP_057676.1:p.Glu197Ala