Canonical Allele Identifier: CA395954610

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385311T>A (hg19) ; chr16:g.56351399T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351399T>A , CM000678.2:g.56351399T>A	GRCh38
NC_000016.9:g.56385311T>A , CM000678.1:g.56385311T>A	GRCh37
NC_000016.8:g.54942812T>A	NCBI36
NG_042800.1:g.165061T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.739T>A MANE Select	ENSP00000262493.6:p.Ser247Thr
ENST00000562316.6:c.406T>A	ENSP00000457238.2:p.Ser136Thr
ENST00000564727.2:c.43T>A	ENSP00000454971.2:p.Ser15Thr
ENST00000568375.2:c.116-3467T>A
ENST00000638185.1:n.954T>A
ENST00000638210.1:n.1039T>A
ENST00000638705.1:c.739T>A	ENSP00000491223.1:p.Ser247Thr
ENST00000638836.1:n.649T>A
ENST00000639055.1:n.1460T>A
ENST00000639251.1:n.640T>A
ENST00000639268.1:c.374T>A
ENST00000639341.1:c.264T>A
ENST00000639770.1:c.777T>A	ENSP00000491999.1:n.777T>A
ENST00000640390.1:n.669T>A
ENST00000640469.1:c.103T>A	ENSP00000491875.1:p.Ser35Thr
ENST00000640560.1:n.515T>A
ENST00000640893.1:c.*137T>A	ENSP00000492677.1:n.*137T>A
ENST00000262493.10:c.739T>A	ENSP00000262493.6:p.Ser247Thr
ENST00000568375.1:n.116-3467T>A
NM_020988.2:c.739T>A	NP_066268.1:p.Ser247Thr
XM_011523003.1:c.613T>A	XP_011521305.1:p.Ser205Thr
XM_011523003.3:c.613T>A	XP_011521305.1:p.Ser205Thr
NM_020988.3:c.739T>A MANE Select	NP_066268.1:p.Ser247Thr