Canonical Allele Identifier: CA409451830

Gene: GNAS GNAS-AS1

Linked Data

• MyVariant Identifiers: chr20:g.57415617C>A (hg19) ; chr20:g.58840562C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840562C>A , CM000682.2:g.58840562C>A	GRCh38
NC_000020.10:g.57415617C>A , CM000682.1:g.57415617C>A	GRCh37
NC_000020.9:g.56849012C>A	NCBI36
NG_016194.1:g.5823C>A
NG_021433.1:g.15342G>T
NG_016194.2:g.5823C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.456C>A (GNAS)	ENSP00000416234.2:p.His152Gln
ENST00000453292.7:c.456C>A (GNAS)	ENSP00000392000.2:p.His152Gln
ENST00000419558.6:c.456C>A (GNAS)	ENSP00000416234.2:p.His152Gln
ENST00000453292.6:c.456C>A (GNAS)	ENSP00000392000.2:p.His152Gln
ENST00000657090.1:c.-39+622C>A (GNAS)	ENSP00000499380.1:n.-39+622C>A
ENST00000667293.1:c.-27-288C>A (GNAS)	ENSP00000499293.1:n.-27-288C>A
ENST00000313949.11:c.456C>A (GNAS)	ENSP00000323571.7:p.His152Gln
ENST00000371075.7:c.456C>A (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.His152Gln
ENST00000371098.6:c.456C>A (GNAS)	ENSP00000360139.2:p.His152Gln
ENST00000419558.5:c.59C>A (GNAS)
ENST00000453292.5:c.219C>A (GNAS)	ENSP00000392000.1:p.His73Gln
NM_016592.2:c.456C>A (GNAS)	NP_057676.1:p.His152Gln
NM_016592.3:c.456C>A (GNAS)	NP_057676.1:p.His152Gln
NR_002785.2:n.819+1375G>T (GNAS-AS1)
XM_017027821.1:c.456C>A (GNAS)	XP_016883310.1:p.His152Gln
XM_017027822.1:c.456C>A (GNAS)	XP_016883311.1:p.His152Gln
XM_024451872.1:c.-282C>A (GNAS)	XP_024307640.1:n.-282C>A
NM_016592.4:c.456C>A (GNAS)	NP_057676.1:p.His152Gln
NM_016592.5:c.456C>A (GNAS) MANE Plus Clinical	NP_057676.1:p.His152Gln