Canonical Allele Identifier: CA746032259

Gene: GNAS GNAS-AS1

Linked Data

• dbSNP Id: rs1296368127
• gnomAD v3: 20-58840998-T-C
• gnomAD v4: 20-58840998-T-C
• MyVariant Identifiers: chr20:g.57416053T>C (hg19) ; chr20:g.58840998T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840998T>C , CM000682.2:g.58840998T>C	GRCh38
NC_000020.10:g.57416053T>C , CM000682.1:g.57416053T>C	GRCh37
NC_000020.9:g.56849448T>C	NCBI36
NG_016194.1:g.6259T>C
NG_021433.1:g.14906A>G
NG_016194.2:g.6259T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.*42+112T>C (GNAS)	ENSP00000416234.2:n.*42+112T>C
ENST00000453292.7:c.780+112T>C (GNAS)	ENSP00000392000.2:n.780+112T>C
ENST00000306090.12:c.43+112T>C (GNAS)	ENSP00000304472.12:n.43+112T>C
ENST00000419558.6:c.*42+112T>C (GNAS)	ENSP00000416234.2:n.*42+112T>C
ENST00000453292.6:c.*42+112T>C (GNAS)	ENSP00000392000.2:n.*42+112T>C
ENST00000657090.1:c.-39+1058T>C (GNAS)	ENSP00000499380.1:n.-39+1058T>C
ENST00000667293.1:c.10+112T>C (GNAS)	ENSP00000499293.1:n.10+112T>C
ENST00000313949.11:c.*42+112T>C (GNAS)	ENSP00000323571.7:n.*42+112T>C
ENST00000371075.7:c.*42+112T>C (GNAS) MANE Plus Clinical	ENSP00000360115.3:n.*42+112T>C
ENST00000371098.6:c.*42+112T>C (GNAS)	ENSP00000360139.2:n.*42+112T>C
ENST00000419558.5:c.383+112T>C (GNAS)
ENST00000453292.5:c.543+112T>C (GNAS)	ENSP00000392000.1:n.543+112T>C
NM_016592.2:c.*42+112T>C (GNAS)	NP_057676.1:n.*42+112T>C
NM_016592.3:c.*42+112T>C (GNAS)	NP_057676.1:n.*42+112T>C
NR_002785.2:n.819+939A>G (GNAS-AS1)
XM_017027815.1:c.43+112T>C (GNAS)	XP_016883304.1:n.43+112T>C
XM_017027821.1:c.*42+112T>C (GNAS)	XP_016883310.1:n.*42+112T>C
XM_017027822.1:c.*42+112T>C (GNAS)	XP_016883311.1:n.*42+112T>C
XM_024451872.1:c.43+112T>C (GNAS)	XP_024307640.1:n.43+112T>C
NM_016592.4:c.*42+112T>C (GNAS)	NP_057676.1:n.*42+112T>C
NM_016592.5:c.*42+112T>C (GNAS) MANE Plus Clinical	NP_057676.1:n.*42+112T>C