Canonical Allele Identifier: CA395952206

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370678A>G (hg19) ; chr16:g.56336766A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336766A>G , CM000678.2:g.56336766A>G	GRCh38
NC_000016.9:g.56370678A>G , CM000678.1:g.56370678A>G	GRCh37
NC_000016.8:g.54928179A>G	NCBI36
NG_042800.1:g.150428A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.629A>G	ENSP00000262494.7:p.Lys210Arg
ENST00000262493.12:c.629A>G MANE Select	ENSP00000262493.6:p.Lys210Arg
ENST00000262494.12:c.629A>G	ENSP00000262494.7:p.Lys210Arg
ENST00000562316.6:c.296A>G	ENSP00000457238.2:p.Lys99Arg
ENST00000568375.2:c.21A>G
ENST00000638185.1:n.844A>G
ENST00000638210.1:n.929A>G
ENST00000638705.1:c.629A>G	ENSP00000491223.1:p.Lys210Arg
ENST00000638836.1:n.539A>G
ENST00000639055.1:n.1350A>G
ENST00000639251.1:n.530A>G
ENST00000639268.1:c.264A>G
ENST00000639341.1:c.154A>G
ENST00000639770.1:c.667A>G	ENSP00000491999.1:n.667A>G
ENST00000640390.1:n.559A>G
ENST00000640560.1:n.405A>G
ENST00000640893.1:c.*27A>G	ENSP00000492677.1:n.*27A>G
ENST00000262493.10:c.629A>G	ENSP00000262493.6:p.Lys210Arg
ENST00000262494.11:c.629A>G	ENSP00000262494.7:p.Lys210Arg
ENST00000568375.1:n.21A>G
NM_020988.2:c.629A>G	NP_066268.1:p.Lys210Arg
NM_138736.2:c.629A>G	NP_620073.2:p.Lys210Arg
XM_011523003.1:c.503A>G	XP_011521305.1:p.Lys168Arg
XM_011523003.3:c.503A>G	XP_011521305.1:p.Lys168Arg
NM_020988.3:c.629A>G MANE Select	NP_066268.1:p.Lys210Arg
NM_138736.3:c.629A>G	NP_620073.2:p.Lys210Arg