Canonical Allele Identifier: CA2575998582

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56351512-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351512G>A , CM000678.2:g.56351512G>A	GRCh38
NC_000016.9:g.56385424G>A , CM000678.1:g.56385424G>A	GRCh37
NC_000016.8:g.54942925G>A	NCBI36
NG_042800.1:g.165174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.852G>A MANE Select	ENSP00000262493.6:p.Leu284=
ENST00000562316.6:c.519G>A	ENSP00000457238.2:p.Leu173=
ENST00000564727.2:c.156G>A	ENSP00000454971.2:p.Leu52=
ENST00000568375.2:c.116-3354G>A
ENST00000638185.1:n.1067G>A
ENST00000638210.1:n.1152G>A
ENST00000638705.1:c.852G>A	ENSP00000491223.1:p.Leu284=
ENST00000638836.1:n.762G>A
ENST00000639055.1:n.1573G>A
ENST00000639251.1:n.753G>A
ENST00000639268.1:c.487G>A
ENST00000639341.1:c.377G>A
ENST00000639770.1:c.890G>A	ENSP00000491999.1:n.890G>A
ENST00000640390.1:n.782G>A
ENST00000640469.1:c.216G>A	ENSP00000491875.1:p.Leu72=
ENST00000640560.1:n.628G>A
ENST00000640893.1:c.*250G>A	ENSP00000492677.1:n.*250G>A
ENST00000262493.10:c.852G>A	ENSP00000262493.6:p.Leu284=
ENST00000564727.1:c.72G>A	ENSP00000454971.1:p.Leu24=
ENST00000568375.1:n.116-3354G>A
NM_020988.2:c.852G>A	NP_066268.1:p.Leu284=
XM_011523003.1:c.726G>A	XP_011521305.1:p.Leu242=
XM_011523003.3:c.726G>A	XP_011521305.1:p.Leu242=
NM_020988.3:c.852G>A MANE Select	NP_066268.1:p.Leu284=