Canonical Allele Identifier: CA8063828

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 695526
• ClinVar RCV Id: RCV000861245 ; RCV001672964 ; RCV002372394
• dbSNP Id: rs189380751
• ExAC: 16:56370709 G / A
• gnomAD v2: 16-56370709-G-A
• gnomAD v3: 16-56336797-G-A
• gnomAD v4: 16-56336797-G-A
• MyVariant Identifiers: chr16:g.56370709G>A (hg19) ; chr16:g.56336797G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336797G>A , CM000678.2:g.56336797G>A	GRCh38
NC_000016.9:g.56370709G>A , CM000678.1:g.56370709G>A	GRCh37
NC_000016.8:g.54928210G>A	NCBI36
NG_042800.1:g.150459G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.660G>A	ENSP00000262494.7:p.Thr220=
ENST00000262493.12:c.660G>A MANE Select	ENSP00000262493.6:p.Thr220=
ENST00000262494.12:c.660G>A	ENSP00000262494.7:p.Thr220=
ENST00000562316.6:c.327G>A	ENSP00000457238.2:p.Thr109=
ENST00000568375.2:c.52G>A
ENST00000638185.1:n.875G>A
ENST00000638210.1:n.960G>A
ENST00000638705.1:c.660G>A	ENSP00000491223.1:p.Thr220=
ENST00000638836.1:n.570G>A
ENST00000639055.1:n.1381G>A
ENST00000639251.1:n.561G>A
ENST00000639268.1:c.295G>A
ENST00000639341.1:c.185G>A
ENST00000639770.1:c.698G>A	ENSP00000491999.1:n.698G>A
ENST00000640390.1:n.590G>A
ENST00000640469.1:c.24G>A	ENSP00000491875.1:p.Thr8=
ENST00000640560.1:n.436G>A
ENST00000640893.1:c.*58G>A	ENSP00000492677.1:n.*58G>A
ENST00000262493.10:c.660G>A	ENSP00000262493.6:p.Thr220=
ENST00000262494.11:c.660G>A	ENSP00000262494.7:p.Thr220=
ENST00000568375.1:n.52G>A
NM_020988.2:c.660G>A	NP_066268.1:p.Thr220=
NM_138736.2:c.660G>A	NP_620073.2:p.Thr220=
XM_011523003.1:c.534G>A	XP_011521305.1:p.Thr178=
XM_011523003.3:c.534G>A	XP_011521305.1:p.Thr178=
NM_020988.3:c.660G>A MANE Select	NP_066268.1:p.Thr220=
NM_138736.3:c.660G>A	NP_620073.2:p.Thr220=