Canonical Allele Identifier: CA395955172

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388870A>T (hg19) ; chr16:g.56354958A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354958A>T , CM000678.2:g.56354958A>T	GRCh38
NC_000016.9:g.56388870A>T , CM000678.1:g.56388870A>T	GRCh37
NC_000016.8:g.54946371A>T	NCBI36
NG_042800.1:g.168620A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.970A>T MANE Select	ENSP00000262493.6:p.Thr324Ser
ENST00000562316.6:c.545-1145A>T	ENSP00000457238.2:n.545-1145A>T
ENST00000564727.2:c.274A>T	ENSP00000454971.2:p.Thr92Ser
ENST00000568375.2:c.208A>T
ENST00000638210.1:n.1270A>T
ENST00000638705.1:c.970A>T	ENSP00000491223.1:p.Thr324Ser
ENST00000638836.1:n.880A>T
ENST00000639251.1:n.871A>T
ENST00000639268.1:c.605A>T
ENST00000639341.1:c.495A>T
ENST00000639770.1:c.1008A>T	ENSP00000491999.1:n.1008A>T
ENST00000640390.1:n.900A>T
ENST00000640469.1:c.334A>T	ENSP00000491875.1:p.Thr112Ser
ENST00000640560.1:n.746A>T
ENST00000640893.1:c.*368A>T	ENSP00000492677.1:n.*368A>T
ENST00000262493.10:c.970A>T	ENSP00000262493.6:p.Thr324Ser
ENST00000564727.1:c.190A>T	ENSP00000454971.1:p.Thr64Ser
ENST00000568375.1:n.208A>T
NM_020988.2:c.970A>T	NP_066268.1:p.Thr324Ser
XM_011523003.1:c.844A>T	XP_011521305.1:p.Thr282Ser
XM_011523003.3:c.844A>T	XP_011521305.1:p.Thr282Ser
NM_020988.3:c.970A>T MANE Select	NP_066268.1:p.Thr324Ser