Canonical Allele Identifier: CA395955184

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388876G>A (hg19) ; chr16:g.56354964G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354964G>A , CM000678.2:g.56354964G>A	GRCh38
NC_000016.9:g.56388876G>A , CM000678.1:g.56388876G>A	GRCh37
NC_000016.8:g.54946377G>A	NCBI36
NG_042800.1:g.168626G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.976G>A MANE Select	ENSP00000262493.6:p.Ala326Thr
ENST00000562316.6:c.545-1139G>A	ENSP00000457238.2:n.545-1139G>A
ENST00000564727.2:c.280G>A	ENSP00000454971.2:p.Ala94Thr
ENST00000568375.2:c.214G>A
ENST00000638210.1:n.1276G>A
ENST00000638705.1:c.976G>A	ENSP00000491223.1:p.Ala326Thr
ENST00000638836.1:n.886G>A
ENST00000639251.1:n.877G>A
ENST00000639268.1:c.611G>A
ENST00000639341.1:c.501G>A
ENST00000639770.1:c.1014G>A	ENSP00000491999.1:n.1014G>A
ENST00000640390.1:n.906G>A
ENST00000640469.1:c.340G>A	ENSP00000491875.1:p.Ala114Thr
ENST00000640560.1:n.752G>A
ENST00000640893.1:c.*374G>A	ENSP00000492677.1:n.*374G>A
ENST00000262493.10:c.976G>A	ENSP00000262493.6:p.Ala326Thr
ENST00000564727.1:c.196G>A	ENSP00000454971.1:p.Ala66Thr
ENST00000568375.1:n.214G>A
NM_020988.2:c.976G>A	NP_066268.1:p.Ala326Thr
XM_011523003.1:c.850G>A	XP_011521305.1:p.Ala284Thr
XM_011523003.3:c.850G>A	XP_011521305.1:p.Ala284Thr
NM_020988.3:c.976G>A MANE Select	NP_066268.1:p.Ala326Thr