Canonical Allele Identifier: CA2633321921

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56351476-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351476A>G , CM000678.2:g.56351476A>G	GRCh38
NC_000016.9:g.56385388A>G , CM000678.1:g.56385388A>G	GRCh37
NC_000016.8:g.54942889A>G	NCBI36
NG_042800.1:g.165138A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.816A>G MANE Select	ENSP00000262493.6:p.Lys272=
ENST00000562316.6:c.483A>G	ENSP00000457238.2:p.Lys161=
ENST00000564727.2:c.120A>G	ENSP00000454971.2:p.Lys40=
ENST00000568375.2:c.116-3390A>G
ENST00000638185.1:n.1031A>G
ENST00000638210.1:n.1116A>G
ENST00000638705.1:c.816A>G	ENSP00000491223.1:p.Lys272=
ENST00000638836.1:n.726A>G
ENST00000639055.1:n.1537A>G
ENST00000639251.1:n.717A>G
ENST00000639268.1:c.451A>G
ENST00000639341.1:c.341A>G
ENST00000639770.1:c.854A>G	ENSP00000491999.1:n.854A>G
ENST00000640390.1:n.746A>G
ENST00000640469.1:c.180A>G	ENSP00000491875.1:p.Lys60=
ENST00000640560.1:n.592A>G
ENST00000640893.1:c.*214A>G	ENSP00000492677.1:n.*214A>G
ENST00000262493.10:c.816A>G	ENSP00000262493.6:p.Lys272=
ENST00000564727.1:c.36A>G	ENSP00000454971.1:p.Lys12=
ENST00000568375.1:n.116-3390A>G
NM_020988.2:c.816A>G	NP_066268.1:p.Lys272=
XM_011523003.1:c.690A>G	XP_011521305.1:p.Lys230=
XM_011523003.3:c.690A>G	XP_011521305.1:p.Lys230=
NM_020988.3:c.816A>G MANE Select	NP_066268.1:p.Lys272=