Canonical Allele Identifier: CA409451852

Gene: GNAS GNAS-AS1

Linked Data

• dbSNP Id: rs776413759
• gnomAD v2: 20-57415627-G-C
• gnomAD v4: 20-58840572-G-C
• MyVariant Identifiers: chr20:g.57415627G>C (hg19) ; chr20:g.58840572G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840572G>C , CM000682.2:g.58840572G>C	GRCh38
NC_000020.10:g.57415627G>C , CM000682.1:g.57415627G>C	GRCh37
NC_000020.9:g.56849022G>C	NCBI36
NG_016194.1:g.5833G>C
NG_021433.1:g.15332C>G
NG_016194.2:g.5833G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.466G>C (GNAS)	ENSP00000416234.2:p.Gly156Arg
ENST00000453292.7:c.466G>C (GNAS)	ENSP00000392000.2:p.Gly156Arg
ENST00000419558.6:c.466G>C (GNAS)	ENSP00000416234.2:p.Gly156Arg
ENST00000453292.6:c.466G>C (GNAS)	ENSP00000392000.2:p.Gly156Arg
ENST00000657090.1:c.-39+632G>C (GNAS)	ENSP00000499380.1:n.-39+632G>C
ENST00000667293.1:c.-27-278G>C (GNAS)	ENSP00000499293.1:n.-27-278G>C
ENST00000313949.11:c.466G>C (GNAS)	ENSP00000323571.7:p.Gly156Arg
ENST00000371075.7:c.466G>C (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Gly156Arg
ENST00000371098.6:c.466G>C (GNAS)	ENSP00000360139.2:p.Gly156Arg
ENST00000419558.5:c.69G>C (GNAS)
ENST00000453292.5:c.229G>C (GNAS)	ENSP00000392000.1:p.Gly77Arg
NM_016592.2:c.466G>C (GNAS)	NP_057676.1:p.Gly156Arg
NM_016592.3:c.466G>C (GNAS)	NP_057676.1:p.Gly156Arg
NR_002785.2:n.819+1365C>G (GNAS-AS1)
XM_017027821.1:c.466G>C (GNAS)	XP_016883310.1:p.Gly156Arg
XM_017027822.1:c.466G>C (GNAS)	XP_016883311.1:p.Gly156Arg
XM_024451872.1:c.-272G>C (GNAS)	XP_024307640.1:n.-272G>C
NM_016592.4:c.466G>C (GNAS)	NP_057676.1:p.Gly156Arg
NM_016592.5:c.466G>C (GNAS) MANE Plus Clinical	NP_057676.1:p.Gly156Arg