Canonical Allele Identifier: CA395955193

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388880C>A (hg19) ; chr16:g.56354968C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354968C>A , CM000678.2:g.56354968C>A	GRCh38
NC_000016.9:g.56388880C>A , CM000678.1:g.56388880C>A	GRCh37
NC_000016.8:g.54946381C>A	NCBI36
NG_042800.1:g.168630C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.980C>A MANE Select	ENSP00000262493.6:p.Thr327Lys
ENST00000562316.6:c.545-1135C>A	ENSP00000457238.2:n.545-1135C>A
ENST00000564727.2:c.284C>A	ENSP00000454971.2:p.Thr95Lys
ENST00000568375.2:c.218C>A
ENST00000638210.1:n.1280C>A
ENST00000638705.1:c.980C>A	ENSP00000491223.1:p.Thr327Lys
ENST00000638836.1:n.890C>A
ENST00000639251.1:n.881C>A
ENST00000639268.1:c.615C>A
ENST00000639341.1:c.505C>A
ENST00000639770.1:c.1018C>A	ENSP00000491999.1:n.1018C>A
ENST00000640390.1:n.910C>A
ENST00000640469.1:c.344C>A	ENSP00000491875.1:p.Thr115Lys
ENST00000640560.1:n.756C>A
ENST00000640893.1:c.*378C>A	ENSP00000492677.1:n.*378C>A
ENST00000262493.10:c.980C>A	ENSP00000262493.6:p.Thr327Lys
ENST00000564727.1:c.200C>A	ENSP00000454971.1:p.Thr67Lys
ENST00000568375.1:n.218C>A
NM_020988.2:c.980C>A	NP_066268.1:p.Thr327Lys
XM_011523003.1:c.854C>A	XP_011521305.1:p.Thr285Lys
XM_011523003.3:c.854C>A	XP_011521305.1:p.Thr285Lys
NM_020988.3:c.980C>A MANE Select	NP_066268.1:p.Thr327Lys