Canonical Allele Identifier: CA395955084

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56354923-A-G
• MyVariant Identifiers: chr16:g.56388835A>G (hg19) ; chr16:g.56354923A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354923A>G , CM000678.2:g.56354923A>G	GRCh38
NC_000016.9:g.56388835A>G , CM000678.1:g.56388835A>G	GRCh37
NC_000016.8:g.54946336A>G	NCBI36
NG_042800.1:g.168585A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.935A>G MANE Select	ENSP00000262493.6:p.Asn312Ser
ENST00000562316.6:c.545-1180A>G	ENSP00000457238.2:n.545-1180A>G
ENST00000564727.2:c.239A>G	ENSP00000454971.2:p.Asn80Ser
ENST00000568375.2:c.173A>G
ENST00000638185.1:n.1150A>G
ENST00000638210.1:n.1235A>G
ENST00000638705.1:c.935A>G	ENSP00000491223.1:p.Asn312Ser
ENST00000638836.1:n.845A>G
ENST00000639055.1:n.1656A>G
ENST00000639251.1:n.836A>G
ENST00000639268.1:c.570A>G
ENST00000639341.1:c.460A>G
ENST00000639770.1:c.973A>G	ENSP00000491999.1:n.973A>G
ENST00000640390.1:n.865A>G
ENST00000640469.1:c.299A>G	ENSP00000491875.1:p.Asn100Ser
ENST00000640560.1:n.711A>G
ENST00000640893.1:c.*333A>G	ENSP00000492677.1:n.*333A>G
ENST00000262493.10:c.935A>G	ENSP00000262493.6:p.Asn312Ser
ENST00000564727.1:c.155A>G	ENSP00000454971.1:p.Asn52Ser
ENST00000568375.1:n.173A>G
NM_020988.2:c.935A>G	NP_066268.1:p.Asn312Ser
XM_011523003.1:c.809A>G	XP_011521305.1:p.Asn270Ser
XM_011523003.3:c.809A>G	XP_011521305.1:p.Asn270Ser
NM_020988.3:c.935A>G MANE Select	NP_066268.1:p.Asn312Ser