Canonical Allele Identifier: CA8063791

Gene: GNAO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334777C>T , CM000678.2:g.56334777C>T	GRCh38
NC_000016.9:g.56368689C>T , CM000678.1:g.56368689C>T	GRCh37
NC_000016.8:g.54926190C>T	NCBI36
NG_042800.1:g.148439C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.513C>T	ENSP00000262494.7:p.Thr171=
ENST00000262493.12:c.513C>T MANE Select	ENSP00000262493.6:p.Thr171=
ENST00000262494.12:c.513C>T	ENSP00000262494.7:p.Thr171=
ENST00000562316.6:c.180C>T	ENSP00000457238.2:p.Thr60=
ENST00000638185.1:n.728C>T
ENST00000638210.1:n.813C>T
ENST00000638705.1:c.513C>T	ENSP00000491223.1:p.Thr171=
ENST00000638836.1:n.423C>T
ENST00000639055.1:n.1234C>T
ENST00000639251.1:n.414C>T
ENST00000639268.1:c.229-1954C>T
ENST00000639341.1:c.38C>T
ENST00000639770.1:c.551C>T	ENSP00000491999.1:n.551C>T
ENST00000640390.1:n.443C>T
ENST00000640893.1:c.352C>T	ENSP00000492677.1:p.Arg118Ter
ENST00000262493.10:c.513C>T	ENSP00000262493.6:p.Thr171=
ENST00000262494.11:c.513C>T	ENSP00000262494.7:p.Thr171=
ENST00000562316.5:c.252C>T	ENSP00000457238.1:p.Thr84=
NM_020988.2:c.513C>T	NP_066268.1:p.Thr171=
NM_138736.2:c.513C>T	NP_620073.2:p.Thr171=
XM_011523003.1:c.387C>T	XP_011521305.1:p.Thr129=
XM_011523003.3:c.387C>T	XP_011521305.1:p.Thr129=
NM_020988.3:c.513C>T MANE Select	NP_066268.1:p.Thr171=
NM_138736.3:c.513C>T	NP_620073.2:p.Thr171=