Canonical Allele Identifier: CA395955213

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388889A>G (hg19) ; chr16:g.56354977A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354977A>G , CM000678.2:g.56354977A>G	GRCh38
NC_000016.9:g.56388889A>G , CM000678.1:g.56388889A>G	GRCh37
NC_000016.8:g.54946390A>G	NCBI36
NG_042800.1:g.168639A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.989A>G MANE Select	ENSP00000262493.6:p.Asn330Ser
ENST00000562316.6:c.545-1126A>G	ENSP00000457238.2:n.545-1126A>G
ENST00000564727.2:c.293A>G	ENSP00000454971.2:p.Asn98Ser
ENST00000568375.2:c.227A>G
ENST00000638210.1:n.1289A>G
ENST00000638705.1:c.989A>G	ENSP00000491223.1:p.Asn330Ser
ENST00000638836.1:n.899A>G
ENST00000639251.1:n.890A>G
ENST00000639268.1:c.624A>G
ENST00000639341.1:c.514A>G
ENST00000639770.1:c.1027A>G	ENSP00000491999.1:n.1027A>G
ENST00000640390.1:n.919A>G
ENST00000640469.1:c.353A>G	ENSP00000491875.1:p.Asn118Ser
ENST00000640560.1:n.765A>G
ENST00000640893.1:c.*387A>G	ENSP00000492677.1:n.*387A>G
ENST00000262493.10:c.989A>G	ENSP00000262493.6:p.Asn330Ser
ENST00000564727.1:c.209A>G	ENSP00000454971.1:p.Asn70Ser
ENST00000568375.1:n.227A>G
NM_020988.2:c.989A>G	NP_066268.1:p.Asn330Ser
XM_011523003.1:c.863A>G	XP_011521305.1:p.Asn288Ser
XM_011523003.3:c.863A>G	XP_011521305.1:p.Asn288Ser
NM_020988.3:c.989A>G MANE Select	NP_066268.1:p.Asn330Ser