Canonical Allele Identifier: CA395955001

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388801G>A (hg19) ; chr16:g.56354889G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354889G>A , CM000678.2:g.56354889G>A	GRCh38
NC_000016.9:g.56388801G>A , CM000678.1:g.56388801G>A	GRCh37
NC_000016.8:g.54946302G>A	NCBI36
NG_042800.1:g.168551G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.901G>A MANE Select	ENSP00000262493.6:p.Ala301Thr
ENST00000562316.6:c.545-1214G>A	ENSP00000457238.2:n.545-1214G>A
ENST00000564727.2:c.205G>A	ENSP00000454971.2:p.Ala69Thr
ENST00000568375.2:c.139G>A
ENST00000638185.1:n.1116G>A
ENST00000638210.1:n.1201G>A
ENST00000638705.1:c.901G>A	ENSP00000491223.1:p.Ala301Thr
ENST00000638836.1:n.811G>A
ENST00000639055.1:n.1622G>A
ENST00000639251.1:n.802G>A
ENST00000639268.1:c.536G>A
ENST00000639341.1:c.426G>A
ENST00000639770.1:c.939G>A	ENSP00000491999.1:n.939G>A
ENST00000640390.1:n.831G>A
ENST00000640469.1:c.265G>A	ENSP00000491875.1:p.Ala89Thr
ENST00000640560.1:n.677G>A
ENST00000640893.1:c.*299G>A	ENSP00000492677.1:n.*299G>A
ENST00000262493.10:c.901G>A	ENSP00000262493.6:p.Ala301Thr
ENST00000564727.1:c.121G>A	ENSP00000454971.1:p.Ala41Thr
ENST00000568375.1:n.139G>A
NM_020988.2:c.901G>A	NP_066268.1:p.Ala301Thr
XM_011523003.1:c.775G>A	XP_011521305.1:p.Ala259Thr
XM_011523003.3:c.775G>A	XP_011521305.1:p.Ala259Thr
NM_020988.3:c.901G>A MANE Select	NP_066268.1:p.Ala301Thr