Canonical Allele Identifier: CA495585976

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56354975-G-T
• MyVariant Identifiers: chr16:g.56388887G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354975G>T , CM000678.2:g.56354975G>T	GRCh38
NC_000016.9:g.56388887G>T , CM000678.1:g.56388887G>T	GRCh37
NC_000016.8:g.54946388G>T	NCBI36
NG_042800.1:g.168637G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.987G>T MANE Select	ENSP00000262493.6:p.Thr329=
ENST00000562316.6:c.545-1128G>T	ENSP00000457238.2:n.545-1128G>T
ENST00000564727.2:c.291G>T	ENSP00000454971.2:p.Thr97=
ENST00000568375.2:c.225G>T
ENST00000638210.1:n.1287G>T
ENST00000638705.1:c.987G>T	ENSP00000491223.1:p.Thr329=
ENST00000638836.1:n.897G>T
ENST00000639251.1:n.888G>T
ENST00000639268.1:c.622G>T
ENST00000639341.1:c.512G>T
ENST00000639770.1:c.1025G>T	ENSP00000491999.1:n.1025G>T
ENST00000640390.1:n.917G>T
ENST00000640469.1:c.351G>T	ENSP00000491875.1:p.Thr117=
ENST00000640560.1:n.763G>T
ENST00000640893.1:c.*385G>T	ENSP00000492677.1:n.*385G>T
ENST00000262493.10:c.987G>T	ENSP00000262493.6:p.Thr329=
ENST00000564727.1:c.207G>T	ENSP00000454971.1:p.Thr69=
ENST00000568375.1:n.225G>T
NM_020988.2:c.987G>T	NP_066268.1:p.Thr329=
XM_011523003.1:c.861G>T	XP_011521305.1:p.Thr287=
XM_011523003.3:c.861G>T	XP_011521305.1:p.Thr287=
NM_020988.3:c.987G>T MANE Select	NP_066268.1:p.Thr329=