Canonical Allele Identifier: CA395952285

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370710G>A (hg19) ; chr16:g.56336798G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336798G>A , CM000678.2:g.56336798G>A	GRCh38
NC_000016.9:g.56370710G>A , CM000678.1:g.56370710G>A	GRCh37
NC_000016.8:g.54928211G>A	NCBI36
NG_042800.1:g.150460G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.661G>A	ENSP00000262494.7:p.Ala221Thr
ENST00000262493.12:c.661G>A MANE Select	ENSP00000262493.6:p.Ala221Thr
ENST00000262494.12:c.661G>A	ENSP00000262494.7:p.Ala221Thr
ENST00000562316.6:c.328G>A	ENSP00000457238.2:p.Ala110Thr
ENST00000568375.2:c.53G>A
ENST00000638185.1:n.876G>A
ENST00000638210.1:n.961G>A
ENST00000638705.1:c.661G>A	ENSP00000491223.1:p.Ala221Thr
ENST00000638836.1:n.571G>A
ENST00000639055.1:n.1382G>A
ENST00000639251.1:n.562G>A
ENST00000639268.1:c.296G>A
ENST00000639341.1:c.186G>A
ENST00000639770.1:c.699G>A	ENSP00000491999.1:n.699G>A
ENST00000640390.1:n.591G>A
ENST00000640469.1:c.25G>A	ENSP00000491875.1:p.Ala9Thr
ENST00000640560.1:n.437G>A
ENST00000640893.1:c.*59G>A	ENSP00000492677.1:n.*59G>A
ENST00000262493.10:c.661G>A	ENSP00000262493.6:p.Ala221Thr
ENST00000262494.11:c.661G>A	ENSP00000262494.7:p.Ala221Thr
ENST00000568375.1:n.53G>A
NM_020988.2:c.661G>A	NP_066268.1:p.Ala221Thr
NM_138736.2:c.661G>A	NP_620073.2:p.Ala221Thr
XM_011523003.1:c.535G>A	XP_011521305.1:p.Ala179Thr
XM_011523003.3:c.535G>A	XP_011521305.1:p.Ala179Thr
NM_020988.3:c.661G>A MANE Select	NP_066268.1:p.Ala221Thr
NM_138736.3:c.661G>A	NP_620073.2:p.Ala221Thr