Canonical Allele Identifier: CA2509112386

Gene: GNAO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351410C>A , CM000678.2:g.56351410C>A	GRCh38
NC_000016.9:g.56385322C>A , CM000678.1:g.56385322C>A	GRCh37
NC_000016.8:g.54942823C>A	NCBI36
NG_042800.1:g.165072C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.750C>A MANE Select	ENSP00000262493.6:p.Leu250=
ENST00000562316.6:c.417C>A	ENSP00000457238.2:p.Leu139=
ENST00000564727.2:c.54C>A	ENSP00000454971.2:p.Leu18=
ENST00000568375.2:c.116-3456C>A
ENST00000638185.1:n.965C>A
ENST00000638210.1:n.1050C>A
ENST00000638705.1:c.750C>A	ENSP00000491223.1:p.Leu250=
ENST00000638836.1:n.660C>A
ENST00000639055.1:n.1471C>A
ENST00000639251.1:n.651C>A
ENST00000639268.1:c.385C>A
ENST00000639341.1:c.275C>A
ENST00000639770.1:c.788C>A	ENSP00000491999.1:n.788C>A
ENST00000640390.1:n.680C>A
ENST00000640469.1:c.114C>A	ENSP00000491875.1:p.Leu38=
ENST00000640560.1:n.526C>A
ENST00000640893.1:c.*148C>A	ENSP00000492677.1:n.*148C>A
ENST00000262493.10:c.750C>A	ENSP00000262493.6:p.Leu250=
ENST00000568375.1:n.116-3456C>A
NM_020988.2:c.750C>A	NP_066268.1:p.Leu250=
XM_011523003.1:c.624C>A	XP_011521305.1:p.Leu208=
XM_011523003.3:c.624C>A	XP_011521305.1:p.Leu208=
NM_020988.3:c.750C>A MANE Select	NP_066268.1:p.Leu250=