Canonical Allele Identifier: CA395954970

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388787C>G (hg19) ; chr16:g.56354875C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354875C>G , CM000678.2:g.56354875C>G	GRCh38
NC_000016.9:g.56388787C>G , CM000678.1:g.56388787C>G	GRCh37
NC_000016.8:g.54946288C>G	NCBI36
NG_042800.1:g.168537C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.887C>G MANE Select	ENSP00000262493.6:p.Thr296Ser
ENST00000562316.6:c.545-1228C>G	ENSP00000457238.2:n.545-1228C>G
ENST00000564727.2:c.191C>G	ENSP00000454971.2:p.Thr64Ser
ENST00000568375.2:c.125C>G
ENST00000638185.1:n.1102C>G
ENST00000638210.1:n.1187C>G
ENST00000638705.1:c.887C>G	ENSP00000491223.1:p.Thr296Ser
ENST00000638836.1:n.797C>G
ENST00000639055.1:n.1608C>G
ENST00000639251.1:n.788C>G
ENST00000639268.1:c.522C>G
ENST00000639341.1:c.412C>G
ENST00000639770.1:c.925C>G	ENSP00000491999.1:n.925C>G
ENST00000640390.1:n.817C>G
ENST00000640469.1:c.251C>G	ENSP00000491875.1:p.Thr84Ser
ENST00000640560.1:n.663C>G
ENST00000640893.1:c.*285C>G	ENSP00000492677.1:n.*285C>G
ENST00000262493.10:c.887C>G	ENSP00000262493.6:p.Thr296Ser
ENST00000564727.1:c.107C>G	ENSP00000454971.1:p.Thr36Ser
ENST00000568375.1:n.125C>G
NM_020988.2:c.887C>G	NP_066268.1:p.Thr296Ser
XM_011523003.1:c.761C>G	XP_011521305.1:p.Thr254Ser
XM_011523003.3:c.761C>G	XP_011521305.1:p.Thr254Ser
NM_020988.3:c.887C>G MANE Select	NP_066268.1:p.Thr296Ser