Canonical Allele Identifier: CA10603414

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 280589
• ClinVar RCV Id: RCV000307507 ; RCV002519057
• dbSNP Id: rs886041766
• gnomAD v4: 16-56192574-G-A
• MyVariant Identifiers: chr16:g.56226486G>A (hg19) ; chr16:g.56192574G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56192574G>A , CM000678.2:g.56192574G>A	GRCh38
NC_000016.9:g.56226486G>A , CM000678.1:g.56226486G>A	GRCh37
NC_000016.8:g.54783987G>A	NCBI36
NG_042800.1:g.6236G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.119G>A	ENSP00000262494.7:p.Gly40Glu
ENST00000262493.12:c.119G>A MANE Select	ENSP00000262493.6:p.Gly40Glu
ENST00000262494.12:c.119G>A	ENSP00000262494.7:p.Gly40Glu
ENST00000563661.2:c.119G>A	ENSP00000492694.1:p.Gly40Glu
ENST00000569295.6:c.119G>A	ENSP00000492271.1:p.Gly40Glu
ENST00000570235.2:c.119G>A	ENSP00000477740.2:p.Gly40Glu
ENST00000638705.1:c.119G>A	ENSP00000491223.1:p.Gly40Glu
ENST00000638836.1:n.29G>A
ENST00000639251.1:n.20G>A
ENST00000639770.1:c.86G>A	ENSP00000491999.1:p.Gly29Glu
ENST00000639966.1:n.134G>A
ENST00000640893.1:c.119G>A	ENSP00000492677.1:p.Gly40Glu
ENST00000675160.1:c.119G>A	ENSP00000502403.1:p.Gly40Glu
ENST00000262493.10:c.119G>A	ENSP00000262493.6:p.Gly40Glu
ENST00000262494.11:c.119G>A	ENSP00000262494.7:p.Gly40Glu
ENST00000563661.1:n.116G>A
ENST00000565363.5:c.-380G>A	ENSP00000454728.1:n.-380G>A
ENST00000569295.5:n.341G>A
ENST00000570235.1:c.119G>A	ENSP00000477740.1:p.Gly40Glu
NM_020988.2:c.119G>A	NP_066268.1:p.Gly40Glu
NM_138736.2:c.119G>A	NP_620073.2:p.Gly40Glu
XM_011523003.1:c.-380G>A	XP_011521305.1:n.-380G>A
NM_020988.3:c.119G>A MANE Select	NP_066268.1:p.Gly40Glu
NM_138736.3:c.119G>A	NP_620073.2:p.Gly40Glu