Canonical Allele Identifier: CA495586018

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388935C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56355023C>A , CM000678.2:g.56355023C>A	GRCh38
NC_000016.9:g.56388935C>A , CM000678.1:g.56388935C>A	GRCh37
NC_000016.8:g.54946436C>A	NCBI36
NG_042800.1:g.168685C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1035C>A MANE Select	ENSP00000262493.6:p.Ala345=
ENST00000562316.6:c.545-1080C>A	ENSP00000457238.2:n.545-1080C>A
ENST00000564727.2:c.303+36C>A	ENSP00000454971.2:n.303+36C>A
ENST00000568375.2:c.273C>A
ENST00000638210.1:n.1335C>A
ENST00000638705.1:c.1035C>A	ENSP00000491223.1:p.Ala345=
ENST00000638836.1:n.945C>A
ENST00000639251.1:n.936C>A
ENST00000639268.1:c.670C>A
ENST00000639341.1:c.560C>A
ENST00000639770.1:c.1073C>A	ENSP00000491999.1:n.1073C>A
ENST00000640390.1:n.965C>A
ENST00000640469.1:c.399C>A	ENSP00000491875.1:p.Ala133=
ENST00000640560.1:n.811C>A
ENST00000640893.1:c.*433C>A	ENSP00000492677.1:n.*433C>A
ENST00000262493.10:c.1035C>A	ENSP00000262493.6:p.Ala345=
ENST00000564727.1:c.255C>A	ENSP00000454971.1:p.Ala85=
ENST00000568375.1:n.273C>A
NM_020988.2:c.1035C>A	NP_066268.1:p.Ala345=
XM_011523003.1:c.909C>A	XP_011521305.1:p.Ala303=
XM_011523003.3:c.909C>A	XP_011521305.1:p.Ala303=
NM_020988.3:c.1035C>A MANE Select	NP_066268.1:p.Ala345=