Canonical Allele Identifier: CA9926344

Gene: GNAS GNAS-AS1

Linked Data

• ClinVar Variation Id: 3045751
• ClinVar RCV Id: RCV004542355
• dbSNP Id: rs751030899
• ExAC: 20:57415666 C / T
• gnomAD v2: 20-57415666-C-T
• gnomAD v3: 20-58840611-C-T
• gnomAD v4: 20-58840611-C-T
• MyVariant Identifiers: chr20:g.57415666C>T (hg19) ; chr20:g.58840611C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840611C>T , CM000682.2:g.58840611C>T	GRCh38
NC_000020.10:g.57415666C>T , CM000682.1:g.57415666C>T	GRCh37
NC_000020.9:g.56849061C>T	NCBI36
NG_016194.1:g.5872C>T
NG_021433.1:g.15293G>A
NG_016194.2:g.5872C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.505C>T (GNAS)	ENSP00000416234.2:p.Arg169Ter
ENST00000453292.7:c.505C>T (GNAS)	ENSP00000392000.2:p.Arg169Ter
ENST00000419558.6:c.505C>T (GNAS)	ENSP00000416234.2:p.Arg169Ter
ENST00000453292.6:c.505C>T (GNAS)	ENSP00000392000.2:p.Arg169Ter
ENST00000657090.1:c.-39+671C>T (GNAS)	ENSP00000499380.1:n.-39+671C>T
ENST00000667293.1:c.-27-239C>T (GNAS)	ENSP00000499293.1:n.-27-239C>T
ENST00000313949.11:c.505C>T (GNAS)	ENSP00000323571.7:p.Arg169Ter
ENST00000371075.7:c.505C>T (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Arg169Ter
ENST00000371098.6:c.505C>T (GNAS)	ENSP00000360139.2:p.Arg169Ter
ENST00000419558.5:c.108C>T (GNAS)
ENST00000453292.5:c.268C>T (GNAS)	ENSP00000392000.1:p.Arg90Ter
NM_016592.2:c.505C>T (GNAS)	NP_057676.1:p.Arg169Ter
NM_016592.3:c.505C>T (GNAS)	NP_057676.1:p.Arg169Ter
NR_002785.2:n.819+1326G>A (GNAS-AS1)
XM_017027821.1:c.505C>T (GNAS)	XP_016883310.1:p.Arg169Ter
XM_017027822.1:c.505C>T (GNAS)	XP_016883311.1:p.Arg169Ter
XM_024451872.1:c.-233C>T (GNAS)	XP_024307640.1:n.-233C>T
NM_016592.4:c.505C>T (GNAS)	NP_057676.1:p.Arg169Ter
NM_016592.5:c.505C>T (GNAS) MANE Plus Clinical	NP_057676.1:p.Arg169Ter