Canonical Allele Identifier: CA495586015

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388932T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56355020T>A , CM000678.2:g.56355020T>A	GRCh38
NC_000016.9:g.56388932T>A , CM000678.1:g.56388932T>A	GRCh37
NC_000016.8:g.54946433T>A	NCBI36
NG_042800.1:g.168682T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1032T>A MANE Select	ENSP00000262493.6:p.Ile344=
ENST00000562316.6:c.545-1083T>A	ENSP00000457238.2:n.545-1083T>A
ENST00000564727.2:c.303+33T>A	ENSP00000454971.2:n.303+33T>A
ENST00000568375.2:c.270T>A
ENST00000638210.1:n.1332T>A
ENST00000638705.1:c.1032T>A	ENSP00000491223.1:p.Ile344=
ENST00000638836.1:n.942T>A
ENST00000639251.1:n.933T>A
ENST00000639268.1:c.667T>A
ENST00000639341.1:c.557T>A
ENST00000639770.1:c.1070T>A	ENSP00000491999.1:n.1070T>A
ENST00000640390.1:n.962T>A
ENST00000640469.1:c.396T>A	ENSP00000491875.1:p.Ile132=
ENST00000640560.1:n.808T>A
ENST00000640893.1:c.*430T>A	ENSP00000492677.1:n.*430T>A
ENST00000262493.10:c.1032T>A	ENSP00000262493.6:p.Ile344=
ENST00000564727.1:c.252T>A	ENSP00000454971.1:p.Ile84=
ENST00000568375.1:n.270T>A
NM_020988.2:c.1032T>A	NP_066268.1:p.Ile344=
XM_011523003.1:c.906T>A	XP_011521305.1:p.Ile302=
XM_011523003.3:c.906T>A	XP_011521305.1:p.Ile302=
NM_020988.3:c.1032T>A MANE Select	NP_066268.1:p.Ile344=