Canonical Allele Identifier: CA2653513898

Gene: GNAS GNAS-AS1

Linked Data

• gnomAD v4: 20-58840855-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840855C>G , CM000682.2:g.58840855C>G	GRCh38
NC_000020.10:g.57415910C>G , CM000682.1:g.57415910C>G	GRCh37
NC_000020.9:g.56849305C>G	NCBI36
NG_016194.1:g.6116C>G
NG_021433.1:g.15049G>C
NG_016194.2:g.6116C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.*11C>G (GNAS)	ENSP00000416234.2:n.*11C>G
ENST00000453292.7:c.749C>G (GNAS)	ENSP00000392000.2:n.749C>G
ENST00000306090.12:c.12C>G (GNAS)	ENSP00000304472.12:p.Ala4=
ENST00000419558.6:c.*11C>G (GNAS)	ENSP00000416234.2:n.*11C>G
ENST00000453292.6:c.*11C>G (GNAS)	ENSP00000392000.2:n.*11C>G
ENST00000657090.1:c.-39+915C>G (GNAS)	ENSP00000499380.1:n.-39+915C>G
ENST00000667293.1:c.-22C>G (GNAS)	ENSP00000499293.1:n.-22C>G
ENST00000313949.11:c.*11C>G (GNAS)	ENSP00000323571.7:n.*11C>G
ENST00000371075.7:c.*11C>G (GNAS) MANE Plus Clinical	ENSP00000360115.3:n.*11C>G
ENST00000371098.6:c.*11C>G (GNAS)	ENSP00000360139.2:n.*11C>G
ENST00000419558.5:c.352C>G (GNAS)
ENST00000453292.5:c.512C>G (GNAS)	ENSP00000392000.1:n.512C>G
NM_016592.2:c.*11C>G (GNAS)	NP_057676.1:n.*11C>G
NM_016592.3:c.*11C>G (GNAS)	NP_057676.1:n.*11C>G
NR_002785.2:n.819+1082G>C (GNAS-AS1)
XM_017027815.1:c.12C>G (GNAS)	XP_016883304.1:p.Ala4=
XM_017027821.1:c.*11C>G (GNAS)	XP_016883310.1:n.*11C>G
XM_017027822.1:c.*11C>G (GNAS)	XP_016883311.1:n.*11C>G
XM_024451872.1:c.12C>G (GNAS)	XP_024307640.1:p.Ala4=
NM_016592.4:c.*11C>G (GNAS)	NP_057676.1:n.*11C>G
NM_016592.5:c.*11C>G (GNAS) MANE Plus Clinical	NP_057676.1:n.*11C>G