Canonical Allele Identifier: CA395955096

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388840T>A (hg19) ; chr16:g.56354928T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354928T>A , CM000678.2:g.56354928T>A	GRCh38
NC_000016.9:g.56388840T>A , CM000678.1:g.56388840T>A	GRCh37
NC_000016.8:g.54946341T>A	NCBI36
NG_042800.1:g.168590T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.940T>A MANE Select	ENSP00000262493.6:p.Ser314Thr
ENST00000562316.6:c.545-1175T>A	ENSP00000457238.2:n.545-1175T>A
ENST00000564727.2:c.244T>A	ENSP00000454971.2:p.Ser82Thr
ENST00000568375.2:c.178T>A
ENST00000638185.1:n.1155T>A
ENST00000638210.1:n.1240T>A
ENST00000638705.1:c.940T>A	ENSP00000491223.1:p.Ser314Thr
ENST00000638836.1:n.850T>A
ENST00000639055.1:n.1661T>A
ENST00000639251.1:n.841T>A
ENST00000639268.1:c.575T>A
ENST00000639341.1:c.465T>A
ENST00000639770.1:c.978T>A	ENSP00000491999.1:n.978T>A
ENST00000640390.1:n.870T>A
ENST00000640469.1:c.304T>A	ENSP00000491875.1:p.Ser102Thr
ENST00000640560.1:n.716T>A
ENST00000640893.1:c.*338T>A	ENSP00000492677.1:n.*338T>A
ENST00000262493.10:c.940T>A	ENSP00000262493.6:p.Ser314Thr
ENST00000564727.1:c.160T>A	ENSP00000454971.1:p.Ser54Thr
ENST00000568375.1:n.178T>A
NM_020988.2:c.940T>A	NP_066268.1:p.Ser314Thr
XM_011523003.1:c.814T>A	XP_011521305.1:p.Ser272Thr
XM_011523003.3:c.814T>A	XP_011521305.1:p.Ser272Thr
NM_020988.3:c.940T>A MANE Select	NP_066268.1:p.Ser314Thr