Canonical Allele Identifier: CA495585905

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56354894-C-G
• MyVariant Identifiers: chr16:g.56388806C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354894C>G , CM000678.2:g.56354894C>G	GRCh38
NC_000016.9:g.56388806C>G , CM000678.1:g.56388806C>G	GRCh37
NC_000016.8:g.54946307C>G	NCBI36
NG_042800.1:g.168556C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.906C>G MANE Select	ENSP00000262493.6:p.Ala302=
ENST00000562316.6:c.545-1209C>G	ENSP00000457238.2:n.545-1209C>G
ENST00000564727.2:c.210C>G	ENSP00000454971.2:p.Ala70=
ENST00000568375.2:c.144C>G
ENST00000638185.1:n.1121C>G
ENST00000638210.1:n.1206C>G
ENST00000638705.1:c.906C>G	ENSP00000491223.1:p.Ala302=
ENST00000638836.1:n.816C>G
ENST00000639055.1:n.1627C>G
ENST00000639251.1:n.807C>G
ENST00000639268.1:c.541C>G
ENST00000639341.1:c.431C>G
ENST00000639770.1:c.944C>G	ENSP00000491999.1:n.944C>G
ENST00000640390.1:n.836C>G
ENST00000640469.1:c.270C>G	ENSP00000491875.1:p.Ala90=
ENST00000640560.1:n.682C>G
ENST00000640893.1:c.*304C>G	ENSP00000492677.1:n.*304C>G
ENST00000262493.10:c.906C>G	ENSP00000262493.6:p.Ala302=
ENST00000564727.1:c.126C>G	ENSP00000454971.1:p.Ala42=
ENST00000568375.1:n.144C>G
NM_020988.2:c.906C>G	NP_066268.1:p.Ala302=
XM_011523003.1:c.780C>G	XP_011521305.1:p.Ala260=
XM_011523003.3:c.780C>G	XP_011521305.1:p.Ala260=
NM_020988.3:c.906C>G MANE Select	NP_066268.1:p.Ala302=