Canonical Allele Identifier: CA8063832

Gene: GNAO1

Linked Data

• dbSNP Id: rs759775512
• ExAC: 16:56370738 G / A
• gnomAD v2: 16-56370738-G-A
• gnomAD v4: 16-56336826-G-A
• MyVariant Identifiers: chr16:g.56370738G>A (hg19) ; chr16:g.56336826G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336826G>A , CM000678.2:g.56336826G>A	GRCh38
NC_000016.9:g.56370738G>A , CM000678.1:g.56370738G>A	GRCh37
NC_000016.8:g.54928239G>A	NCBI36
NG_042800.1:g.150488G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.689G>A	ENSP00000262494.7:p.Gly230Asp
ENST00000262493.12:c.689G>A MANE Select	ENSP00000262493.6:p.Gly230Asp
ENST00000262494.12:c.689G>A	ENSP00000262494.7:p.Gly230Asp
ENST00000562316.6:c.356G>A	ENSP00000457238.2:p.Gly119Asp
ENST00000568375.2:c.81G>A
ENST00000638185.1:n.904G>A
ENST00000638210.1:n.989G>A
ENST00000638705.1:c.689G>A	ENSP00000491223.1:p.Gly230Asp
ENST00000638836.1:n.599G>A
ENST00000639055.1:n.1410G>A
ENST00000639251.1:n.590G>A
ENST00000639268.1:c.324G>A
ENST00000639341.1:c.214G>A
ENST00000639770.1:c.727G>A	ENSP00000491999.1:n.727G>A
ENST00000640390.1:n.619G>A
ENST00000640469.1:c.53G>A	ENSP00000491875.1:p.Gly18Asp
ENST00000640560.1:n.465G>A
ENST00000640893.1:c.*87G>A	ENSP00000492677.1:n.*87G>A
ENST00000262493.10:c.689G>A	ENSP00000262493.6:p.Gly230Asp
ENST00000262494.11:c.689G>A	ENSP00000262494.7:p.Gly230Asp
ENST00000568375.1:n.81G>A
NM_020988.2:c.689G>A	NP_066268.1:p.Gly230Asp
NM_138736.2:c.689G>A	NP_620073.2:p.Gly230Asp
XM_011523003.1:c.563G>A	XP_011521305.1:p.Gly188Asp
XM_011523003.3:c.563G>A	XP_011521305.1:p.Gly188Asp
NM_020988.3:c.689G>A MANE Select	NP_066268.1:p.Gly230Asp
NM_138736.3:c.689G>A	NP_620073.2:p.Gly230Asp