Canonical Allele Identifier: CA2653514023

Gene: GNAS GNAS-AS1

Linked Data

• gnomAD v4: 20-58841003-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58841003T>A , CM000682.2:g.58841003T>A	GRCh38
NC_000020.10:g.57416058T>A , CM000682.1:g.57416058T>A	GRCh37
NC_000020.9:g.56849453T>A	NCBI36
NG_016194.1:g.6264T>A
NG_021433.1:g.14901A>T
NG_016194.2:g.6264T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.*42+117T>A (GNAS)	ENSP00000416234.2:n.*42+117T>A
ENST00000453292.7:c.780+117T>A (GNAS)	ENSP00000392000.2:n.780+117T>A
ENST00000306090.12:c.43+117T>A (GNAS)	ENSP00000304472.12:n.43+117T>A
ENST00000419558.6:c.*42+117T>A (GNAS)	ENSP00000416234.2:n.*42+117T>A
ENST00000453292.6:c.*42+117T>A (GNAS)	ENSP00000392000.2:n.*42+117T>A
ENST00000657090.1:c.-39+1063T>A (GNAS)	ENSP00000499380.1:n.-39+1063T>A
ENST00000667293.1:c.10+117T>A (GNAS)	ENSP00000499293.1:n.10+117T>A
ENST00000313949.11:c.*42+117T>A (GNAS)	ENSP00000323571.7:n.*42+117T>A
ENST00000371075.7:c.*42+117T>A (GNAS) MANE Plus Clinical	ENSP00000360115.3:n.*42+117T>A
ENST00000371098.6:c.*42+117T>A (GNAS)	ENSP00000360139.2:n.*42+117T>A
ENST00000419558.5:c.383+117T>A (GNAS)
ENST00000453292.5:c.543+117T>A (GNAS)	ENSP00000392000.1:n.543+117T>A
NM_016592.2:c.*42+117T>A (GNAS)	NP_057676.1:n.*42+117T>A
NM_016592.3:c.*42+117T>A (GNAS)	NP_057676.1:n.*42+117T>A
NR_002785.2:n.819+934A>T (GNAS-AS1)
XM_017027815.1:c.43+117T>A (GNAS)	XP_016883304.1:n.43+117T>A
XM_017027821.1:c.*42+117T>A (GNAS)	XP_016883310.1:n.*42+117T>A
XM_017027822.1:c.*42+117T>A (GNAS)	XP_016883311.1:n.*42+117T>A
XM_024451872.1:c.43+117T>A (GNAS)	XP_024307640.1:n.43+117T>A
NM_016592.4:c.*42+117T>A (GNAS)	NP_057676.1:n.*42+117T>A
NM_016592.5:c.*42+117T>A (GNAS) MANE Plus Clinical	NP_057676.1:n.*42+117T>A