Canonical Allele Identifier: CA395955162

Gene: GNAO1

Linked Data

• dbSNP Id: rs1383543515
• gnomAD v3: 16-56354955-A-G
• gnomAD v4: 16-56354955-A-G
• MyVariant Identifiers: chr16:g.56388867A>G (hg19) ; chr16:g.56354955A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354955A>G , CM000678.2:g.56354955A>G	GRCh38
NC_000016.9:g.56388867A>G , CM000678.1:g.56388867A>G	GRCh37
NC_000016.8:g.54946368A>G	NCBI36
NG_042800.1:g.168617A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.967A>G MANE Select	ENSP00000262493.6:p.Met323Val
ENST00000562316.6:c.545-1148A>G	ENSP00000457238.2:n.545-1148A>G
ENST00000564727.2:c.271A>G	ENSP00000454971.2:p.Met91Val
ENST00000568375.2:c.205A>G
ENST00000638210.1:n.1267A>G
ENST00000638705.1:c.967A>G	ENSP00000491223.1:p.Met323Val
ENST00000638836.1:n.877A>G
ENST00000639251.1:n.868A>G
ENST00000639268.1:c.602A>G
ENST00000639341.1:c.492A>G
ENST00000639770.1:c.1005A>G	ENSP00000491999.1:n.1005A>G
ENST00000640390.1:n.897A>G
ENST00000640469.1:c.331A>G	ENSP00000491875.1:p.Met111Val
ENST00000640560.1:n.743A>G
ENST00000640893.1:c.*365A>G	ENSP00000492677.1:n.*365A>G
ENST00000262493.10:c.967A>G	ENSP00000262493.6:p.Met323Val
ENST00000564727.1:c.187A>G	ENSP00000454971.1:p.Met63Val
ENST00000568375.1:n.205A>G
NM_020988.2:c.967A>G	NP_066268.1:p.Met323Val
XM_011523003.1:c.841A>G	XP_011521305.1:p.Met281Val
XM_011523003.3:c.841A>G	XP_011521305.1:p.Met281Val
NM_020988.3:c.967A>G MANE Select	NP_066268.1:p.Met323Val