Canonical Allele Identifier: CA495585913

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388818A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354906A>C , CM000678.2:g.56354906A>C	GRCh38
NC_000016.9:g.56388818A>C , CM000678.1:g.56388818A>C	GRCh37
NC_000016.8:g.54946319A>C	NCBI36
NG_042800.1:g.168568A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.918A>C MANE Select	ENSP00000262493.6:p.Ala306=
ENST00000562316.6:c.545-1197A>C	ENSP00000457238.2:n.545-1197A>C
ENST00000564727.2:c.222A>C	ENSP00000454971.2:p.Ala74=
ENST00000568375.2:c.156A>C
ENST00000638185.1:n.1133A>C
ENST00000638210.1:n.1218A>C
ENST00000638705.1:c.918A>C	ENSP00000491223.1:p.Ala306=
ENST00000638836.1:n.828A>C
ENST00000639055.1:n.1639A>C
ENST00000639251.1:n.819A>C
ENST00000639268.1:c.553A>C
ENST00000639341.1:c.443A>C
ENST00000639770.1:c.956A>C	ENSP00000491999.1:n.956A>C
ENST00000640390.1:n.848A>C
ENST00000640469.1:c.282A>C	ENSP00000491875.1:p.Ala94=
ENST00000640560.1:n.694A>C
ENST00000640893.1:c.*316A>C	ENSP00000492677.1:n.*316A>C
ENST00000262493.10:c.918A>C	ENSP00000262493.6:p.Ala306=
ENST00000564727.1:c.138A>C	ENSP00000454971.1:p.Ala46=
ENST00000568375.1:n.156A>C
NM_020988.2:c.918A>C	NP_066268.1:p.Ala306=
XM_011523003.1:c.792A>C	XP_011521305.1:p.Ala264=
XM_011523003.3:c.792A>C	XP_011521305.1:p.Ala264=
NM_020988.3:c.918A>C MANE Select	NP_066268.1:p.Ala306=