Canonical Allele Identifier: CA395955382

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388936A>T (hg19) ; chr16:g.56355024A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56355024A>T , CM000678.2:g.56355024A>T	GRCh38
NC_000016.9:g.56388936A>T , CM000678.1:g.56388936A>T	GRCh37
NC_000016.8:g.54946437A>T	NCBI36
NG_042800.1:g.168686A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1036A>T MANE Select	ENSP00000262493.6:p.Asn346Tyr
ENST00000562316.6:c.545-1079A>T	ENSP00000457238.2:n.545-1079A>T
ENST00000564727.2:c.303+37A>T	ENSP00000454971.2:n.303+37A>T
ENST00000568375.2:c.274A>T
ENST00000638210.1:n.1336A>T
ENST00000638705.1:c.1036A>T	ENSP00000491223.1:p.Asn346Tyr
ENST00000638836.1:n.946A>T
ENST00000639251.1:n.937A>T
ENST00000639268.1:c.671A>T
ENST00000639341.1:c.561A>T
ENST00000639770.1:c.1074A>T	ENSP00000491999.1:n.1074A>T
ENST00000640390.1:n.966A>T
ENST00000640469.1:c.400A>T	ENSP00000491875.1:p.Asn134Tyr
ENST00000640560.1:n.812A>T
ENST00000640893.1:c.*434A>T	ENSP00000492677.1:n.*434A>T
ENST00000262493.10:c.1036A>T	ENSP00000262493.6:p.Asn346Tyr
ENST00000564727.1:c.256A>T	ENSP00000454971.1:p.Asn86Tyr
ENST00000568375.1:n.274A>T
NM_020988.2:c.1036A>T	NP_066268.1:p.Asn346Tyr
XM_011523003.1:c.910A>T	XP_011521305.1:p.Asn304Tyr
XM_011523003.3:c.910A>T	XP_011521305.1:p.Asn304Tyr
NM_020988.3:c.1036A>T MANE Select	NP_066268.1:p.Asn346Tyr