Canonical Allele Identifier: CA409452894

Gene: GNAS GNAS-AS1

Linked Data

• MyVariant Identifiers: chr20:g.57415752G>C (hg19) ; chr20:g.58840697G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840697G>C , CM000682.2:g.58840697G>C	GRCh38
NC_000020.10:g.57415752G>C , CM000682.1:g.57415752G>C	GRCh37
NC_000020.9:g.56849147G>C	NCBI36
NG_016194.1:g.5958G>C
NG_021433.1:g.15207C>G
NG_016194.2:g.5958G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.591G>C (GNAS)	ENSP00000416234.2:p.Glu197Asp
ENST00000453292.7:c.591G>C (GNAS)	ENSP00000392000.2:p.Glu197Asp
ENST00000419558.6:c.591G>C (GNAS)	ENSP00000416234.2:p.Glu197Asp
ENST00000453292.6:c.591G>C (GNAS)	ENSP00000392000.2:p.Glu197Asp
ENST00000657090.1:c.-39+757G>C (GNAS)	ENSP00000499380.1:n.-39+757G>C
ENST00000667293.1:c.-27-153G>C (GNAS)	ENSP00000499293.1:n.-27-153G>C
ENST00000313949.11:c.591G>C (GNAS)	ENSP00000323571.7:p.Glu197Asp
ENST00000371075.7:c.591G>C (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Glu197Asp
ENST00000371098.6:c.591G>C (GNAS)	ENSP00000360139.2:p.Glu197Asp
ENST00000419558.5:c.194G>C (GNAS)
ENST00000453292.5:c.354G>C (GNAS)	ENSP00000392000.1:p.Glu118Asp
NM_016592.2:c.591G>C (GNAS)	NP_057676.1:p.Glu197Asp
NM_016592.3:c.591G>C (GNAS)	NP_057676.1:p.Glu197Asp
NR_002785.2:n.819+1240C>G (GNAS-AS1)
XM_017027821.1:c.591G>C (GNAS)	XP_016883310.1:p.Glu197Asp
XM_017027822.1:c.591G>C (GNAS)	XP_016883311.1:p.Glu197Asp
XM_024451872.1:c.-147G>C (GNAS)	XP_024307640.1:n.-147G>C
NM_016592.4:c.591G>C (GNAS)	NP_057676.1:p.Glu197Asp
NM_016592.5:c.591G>C (GNAS) MANE Plus Clinical	NP_057676.1:p.Glu197Asp