Canonical Allele Identifier: CA395955057

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388825G>A (hg19) ; chr16:g.56354913G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354913G>A , CM000678.2:g.56354913G>A	GRCh38
NC_000016.9:g.56388825G>A , CM000678.1:g.56388825G>A	GRCh37
NC_000016.8:g.54946326G>A	NCBI36
NG_042800.1:g.168575G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.925G>A MANE Select	ENSP00000262493.6:p.Glu309Lys
ENST00000562316.6:c.545-1190G>A	ENSP00000457238.2:n.545-1190G>A
ENST00000564727.2:c.229G>A	ENSP00000454971.2:p.Glu77Lys
ENST00000568375.2:c.163G>A
ENST00000638185.1:n.1140G>A
ENST00000638210.1:n.1225G>A
ENST00000638705.1:c.925G>A	ENSP00000491223.1:p.Glu309Lys
ENST00000638836.1:n.835G>A
ENST00000639055.1:n.1646G>A
ENST00000639251.1:n.826G>A
ENST00000639268.1:c.560G>A
ENST00000639341.1:c.450G>A
ENST00000639770.1:c.963G>A	ENSP00000491999.1:n.963G>A
ENST00000640390.1:n.855G>A
ENST00000640469.1:c.289G>A	ENSP00000491875.1:p.Glu97Lys
ENST00000640560.1:n.701G>A
ENST00000640893.1:c.*323G>A	ENSP00000492677.1:n.*323G>A
ENST00000262493.10:c.925G>A	ENSP00000262493.6:p.Glu309Lys
ENST00000564727.1:c.145G>A	ENSP00000454971.1:p.Glu49Lys
ENST00000568375.1:n.163G>A
NM_020988.2:c.925G>A	NP_066268.1:p.Glu309Lys
XM_011523003.1:c.799G>A	XP_011521305.1:p.Glu267Lys
XM_011523003.3:c.799G>A	XP_011521305.1:p.Glu267Lys
NM_020988.3:c.925G>A MANE Select	NP_066268.1:p.Glu309Lys