Canonical Allele Identifier: CA395955186

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388876G>T (hg19) ; chr16:g.56354964G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354964G>T , CM000678.2:g.56354964G>T	GRCh38
NC_000016.9:g.56388876G>T , CM000678.1:g.56388876G>T	GRCh37
NC_000016.8:g.54946377G>T	NCBI36
NG_042800.1:g.168626G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.976G>T MANE Select	ENSP00000262493.6:p.Ala326Ser
ENST00000562316.6:c.545-1139G>T	ENSP00000457238.2:n.545-1139G>T
ENST00000564727.2:c.280G>T	ENSP00000454971.2:p.Ala94Ser
ENST00000568375.2:c.214G>T
ENST00000638210.1:n.1276G>T
ENST00000638705.1:c.976G>T	ENSP00000491223.1:p.Ala326Ser
ENST00000638836.1:n.886G>T
ENST00000639251.1:n.877G>T
ENST00000639268.1:c.611G>T
ENST00000639341.1:c.501G>T
ENST00000639770.1:c.1014G>T	ENSP00000491999.1:n.1014G>T
ENST00000640390.1:n.906G>T
ENST00000640469.1:c.340G>T	ENSP00000491875.1:p.Ala114Ser
ENST00000640560.1:n.752G>T
ENST00000640893.1:c.*374G>T	ENSP00000492677.1:n.*374G>T
ENST00000262493.10:c.976G>T	ENSP00000262493.6:p.Ala326Ser
ENST00000564727.1:c.196G>T	ENSP00000454971.1:p.Ala66Ser
ENST00000568375.1:n.214G>T
NM_020988.2:c.976G>T	NP_066268.1:p.Ala326Ser
XM_011523003.1:c.850G>T	XP_011521305.1:p.Ala284Ser
XM_011523003.3:c.850G>T	XP_011521305.1:p.Ala284Ser
NM_020988.3:c.976G>T MANE Select	NP_066268.1:p.Ala326Ser