Canonical Allele Identifier: CA409453355

Gene: GNAS GNAS-AS1

Linked Data

• MyVariant Identifiers: chr20:g.57415844A>C (hg19) ; chr20:g.58840789A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840789A>C , CM000682.2:g.58840789A>C	GRCh38
NC_000020.10:g.57415844A>C , CM000682.1:g.57415844A>C	GRCh37
NC_000020.9:g.56849239A>C	NCBI36
NG_016194.1:g.6050A>C
NG_021433.1:g.15115T>G
NG_016194.2:g.6050A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.683A>C (GNAS)	ENSP00000416234.2:p.Asp228Ala
ENST00000453292.7:c.683A>C (GNAS)	ENSP00000392000.2:p.Asp228Ala
ENST00000419558.6:c.683A>C (GNAS)	ENSP00000416234.2:p.Asp228Ala
ENST00000453292.6:c.683A>C (GNAS)	ENSP00000392000.2:p.Asp228Ala
ENST00000657090.1:c.-39+849A>C (GNAS)	ENSP00000499380.1:n.-39+849A>C
ENST00000667293.1:c.-27-61A>C (GNAS)	ENSP00000499293.1:n.-27-61A>C
ENST00000313949.11:c.683A>C (GNAS)	ENSP00000323571.7:p.Asp228Ala
ENST00000371075.7:c.683A>C (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Asp228Ala
ENST00000371098.6:c.683A>C (GNAS)	ENSP00000360139.2:p.Asp228Ala
ENST00000419558.5:c.286A>C (GNAS)
ENST00000453292.5:c.446A>C (GNAS)	ENSP00000392000.1:p.Asp149Ala
NM_016592.2:c.683A>C (GNAS)	NP_057676.1:p.Asp228Ala
NM_016592.3:c.683A>C (GNAS)	NP_057676.1:p.Asp228Ala
NR_002785.2:n.819+1148T>G (GNAS-AS1)
XM_017027821.1:c.683A>C (GNAS)	XP_016883310.1:p.Asp228Ala
XM_017027822.1:c.683A>C (GNAS)	XP_016883311.1:p.Asp228Ala
XM_024451872.1:c.-55A>C (GNAS)	XP_024307640.1:n.-55A>C
NM_016592.4:c.683A>C (GNAS)	NP_057676.1:p.Asp228Ala
NM_016592.5:c.683A>C (GNAS) MANE Plus Clinical	NP_057676.1:p.Asp228Ala