Canonical Allele Identifier: CA8063990

Gene: GNAO1

Linked Data

• dbSNP Id: rs760862770
• ExAC: 16:56385306 A / G
• gnomAD v2: 16-56385306-A-G
• gnomAD v4: 16-56351394-A-G
• MyVariant Identifiers: chr16:g.56385306A>G (hg19) ; chr16:g.56351394A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351394A>G , CM000678.2:g.56351394A>G	GRCh38
NC_000016.9:g.56385306A>G , CM000678.1:g.56385306A>G	GRCh37
NC_000016.8:g.54942807A>G	NCBI36
NG_042800.1:g.165056A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.734A>G MANE Select	ENSP00000262493.6:p.His245Arg
ENST00000562316.6:c.401A>G	ENSP00000457238.2:p.His134Arg
ENST00000564727.2:c.38A>G	ENSP00000454971.2:p.His13Arg
ENST00000568375.2:c.116-3472A>G
ENST00000638185.1:n.949A>G
ENST00000638210.1:n.1034A>G
ENST00000638705.1:c.734A>G	ENSP00000491223.1:p.His245Arg
ENST00000638836.1:n.644A>G
ENST00000639055.1:n.1455A>G
ENST00000639251.1:n.635A>G
ENST00000639268.1:c.369A>G
ENST00000639341.1:c.259A>G
ENST00000639770.1:c.772A>G	ENSP00000491999.1:n.772A>G
ENST00000640390.1:n.664A>G
ENST00000640469.1:c.98A>G	ENSP00000491875.1:p.His33Arg
ENST00000640560.1:n.510A>G
ENST00000640893.1:c.*132A>G	ENSP00000492677.1:n.*132A>G
ENST00000262493.10:c.734A>G	ENSP00000262493.6:p.His245Arg
ENST00000568375.1:n.116-3472A>G
NM_020988.2:c.734A>G	NP_066268.1:p.His245Arg
XM_011523003.1:c.608A>G	XP_011521305.1:p.His203Arg
XM_011523003.3:c.608A>G	XP_011521305.1:p.His203Arg
NM_020988.3:c.734A>G MANE Select	NP_066268.1:p.His245Arg