Canonical Allele Identifier: CA511315913

Gene: GNAS GNAS-AS1

Linked Data

• dbSNP Id: rs1305983628
• gnomAD v2: 20-57415683-C-T
• COSMIC: COSM3548230
• MyVariant Identifiers: chr20:g.57415683C>T (hg19) ; chr20:g.58840628C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840628C>T , CM000682.2:g.58840628C>T	GRCh38
NC_000020.10:g.57415683C>T , CM000682.1:g.57415683C>T	GRCh37
NC_000020.9:g.56849078C>T	NCBI36
NG_016194.1:g.5889C>T
NG_021433.1:g.15276G>A
NG_016194.2:g.5889C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.522C>T (GNAS)	ENSP00000416234.2:p.Ser174=
ENST00000453292.7:c.522C>T (GNAS)	ENSP00000392000.2:p.Ser174=
ENST00000419558.6:c.522C>T (GNAS)	ENSP00000416234.2:p.Ser174=
ENST00000453292.6:c.522C>T (GNAS)	ENSP00000392000.2:p.Ser174=
ENST00000657090.1:c.-39+688C>T (GNAS)	ENSP00000499380.1:n.-39+688C>T
ENST00000667293.1:c.-27-222C>T (GNAS)	ENSP00000499293.1:n.-27-222C>T
ENST00000313949.11:c.522C>T (GNAS)	ENSP00000323571.7:p.Ser174=
ENST00000371075.7:c.522C>T (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Ser174=
ENST00000371098.6:c.522C>T (GNAS)	ENSP00000360139.2:p.Ser174=
ENST00000419558.5:c.125C>T (GNAS)
ENST00000453292.5:c.285C>T (GNAS)	ENSP00000392000.1:p.Ser95=
NM_016592.2:c.522C>T (GNAS)	NP_057676.1:p.Ser174=
NM_016592.3:c.522C>T (GNAS)	NP_057676.1:p.Ser174=
NR_002785.2:n.819+1309G>A (GNAS-AS1)
XM_017027821.1:c.522C>T (GNAS)	XP_016883310.1:p.Ser174=
XM_017027822.1:c.522C>T (GNAS)	XP_016883311.1:p.Ser174=
XM_024451872.1:c.-216C>T (GNAS)	XP_024307640.1:n.-216C>T
NM_016592.4:c.522C>T (GNAS)	NP_057676.1:p.Ser174=
NM_016592.5:c.522C>T (GNAS) MANE Plus Clinical	NP_057676.1:p.Ser174=