Canonical Allele Identifier: CA395955070

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388830C>A (hg19) ; chr16:g.56354918C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354918C>A , CM000678.2:g.56354918C>A	GRCh38
NC_000016.9:g.56388830C>A , CM000678.1:g.56388830C>A	GRCh37
NC_000016.8:g.54946331C>A	NCBI36
NG_042800.1:g.168580C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.930C>A MANE Select	ENSP00000262493.6:p.Ser310Arg
ENST00000562316.6:c.545-1185C>A	ENSP00000457238.2:n.545-1185C>A
ENST00000564727.2:c.234C>A	ENSP00000454971.2:p.Ser78Arg
ENST00000568375.2:c.168C>A
ENST00000638185.1:n.1145C>A
ENST00000638210.1:n.1230C>A
ENST00000638705.1:c.930C>A	ENSP00000491223.1:p.Ser310Arg
ENST00000638836.1:n.840C>A
ENST00000639055.1:n.1651C>A
ENST00000639251.1:n.831C>A
ENST00000639268.1:c.565C>A
ENST00000639341.1:c.455C>A
ENST00000639770.1:c.968C>A	ENSP00000491999.1:n.968C>A
ENST00000640390.1:n.860C>A
ENST00000640469.1:c.294C>A	ENSP00000491875.1:p.Ser98Arg
ENST00000640560.1:n.706C>A
ENST00000640893.1:c.*328C>A	ENSP00000492677.1:n.*328C>A
ENST00000262493.10:c.930C>A	ENSP00000262493.6:p.Ser310Arg
ENST00000564727.1:c.150C>A	ENSP00000454971.1:p.Ser50Arg
ENST00000568375.1:n.168C>A
NM_020988.2:c.930C>A	NP_066268.1:p.Ser310Arg
XM_011523003.1:c.804C>A	XP_011521305.1:p.Ser268Arg
XM_011523003.3:c.804C>A	XP_011521305.1:p.Ser268Arg
NM_020988.3:c.930C>A MANE Select	NP_066268.1:p.Ser310Arg