Canonical Allele Identifier: CA2807145107

Gene: GNAO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351506A>T , CM000678.2:g.56351506A>T	GRCh38
NC_000016.9:g.56385418A>T , CM000678.1:g.56385418A>T	GRCh37
NC_000016.8:g.54942919A>T	NCBI36
NG_042800.1:g.165168A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.846A>T MANE Select	ENSP00000262493.6:p.Ser282=
ENST00000562316.6:c.513A>T	ENSP00000457238.2:p.Ser171=
ENST00000564727.2:c.150A>T	ENSP00000454971.2:p.Ser50=
ENST00000568375.2:c.116-3360A>T
ENST00000638185.1:n.1061A>T
ENST00000638210.1:n.1146A>T
ENST00000638705.1:c.846A>T	ENSP00000491223.1:p.Ser282=
ENST00000638836.1:n.756A>T
ENST00000639055.1:n.1567A>T
ENST00000639251.1:n.747A>T
ENST00000639268.1:c.481A>T
ENST00000639341.1:c.371A>T
ENST00000639770.1:c.884A>T	ENSP00000491999.1:n.884A>T
ENST00000640390.1:n.776A>T
ENST00000640469.1:c.210A>T	ENSP00000491875.1:p.Ser70=
ENST00000640560.1:n.622A>T
ENST00000640893.1:c.*244A>T	ENSP00000492677.1:n.*244A>T
ENST00000262493.10:c.846A>T	ENSP00000262493.6:p.Ser282=
ENST00000564727.1:c.66A>T	ENSP00000454971.1:p.Ser22=
ENST00000568375.1:n.116-3360A>T
NM_020988.2:c.846A>T	NP_066268.1:p.Ser282=
XM_011523003.1:c.720A>T	XP_011521305.1:p.Ser240=
XM_011523003.3:c.720A>T	XP_011521305.1:p.Ser240=
NM_020988.3:c.846A>T MANE Select	NP_066268.1:p.Ser282=