Canonical Allele Identifier: CA395955160

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388866C>G (hg19) ; chr16:g.56354954C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354954C>G , CM000678.2:g.56354954C>G	GRCh38
NC_000016.9:g.56388866C>G , CM000678.1:g.56388866C>G	GRCh37
NC_000016.8:g.54946367C>G	NCBI36
NG_042800.1:g.168616C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.966C>G MANE Select	ENSP00000262493.6:p.His322Gln
ENST00000562316.6:c.545-1149C>G	ENSP00000457238.2:n.545-1149C>G
ENST00000564727.2:c.270C>G	ENSP00000454971.2:p.His90Gln
ENST00000568375.2:c.204C>G
ENST00000638210.1:n.1266C>G
ENST00000638705.1:c.966C>G	ENSP00000491223.1:p.His322Gln
ENST00000638836.1:n.876C>G
ENST00000639251.1:n.867C>G
ENST00000639268.1:c.601C>G
ENST00000639341.1:c.491C>G
ENST00000639770.1:c.1004C>G	ENSP00000491999.1:n.1004C>G
ENST00000640390.1:n.896C>G
ENST00000640469.1:c.330C>G	ENSP00000491875.1:p.His110Gln
ENST00000640560.1:n.742C>G
ENST00000640893.1:c.*364C>G	ENSP00000492677.1:n.*364C>G
ENST00000262493.10:c.966C>G	ENSP00000262493.6:p.His322Gln
ENST00000564727.1:c.186C>G	ENSP00000454971.1:p.His62Gln
ENST00000568375.1:n.204C>G
NM_020988.2:c.966C>G	NP_066268.1:p.His322Gln
XM_011523003.1:c.840C>G	XP_011521305.1:p.His280Gln
XM_011523003.3:c.840C>G	XP_011521305.1:p.His280Gln
NM_020988.3:c.966C>G MANE Select	NP_066268.1:p.His322Gln