Canonical Allele Identifier: CA395954989

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388795G>C (hg19) ; chr16:g.56354883G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354883G>C , CM000678.2:g.56354883G>C	GRCh38
NC_000016.9:g.56388795G>C , CM000678.1:g.56388795G>C	GRCh37
NC_000016.8:g.54946296G>C	NCBI36
NG_042800.1:g.168545G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.895G>C MANE Select	ENSP00000262493.6:p.Asp299His
ENST00000562316.6:c.545-1220G>C	ENSP00000457238.2:n.545-1220G>C
ENST00000564727.2:c.199G>C	ENSP00000454971.2:p.Asp67His
ENST00000568375.2:c.133G>C
ENST00000638185.1:n.1110G>C
ENST00000638210.1:n.1195G>C
ENST00000638705.1:c.895G>C	ENSP00000491223.1:p.Asp299His
ENST00000638836.1:n.805G>C
ENST00000639055.1:n.1616G>C
ENST00000639251.1:n.796G>C
ENST00000639268.1:c.530G>C
ENST00000639341.1:c.420G>C
ENST00000639770.1:c.933G>C	ENSP00000491999.1:n.933G>C
ENST00000640390.1:n.825G>C
ENST00000640469.1:c.259G>C	ENSP00000491875.1:p.Asp87His
ENST00000640560.1:n.671G>C
ENST00000640893.1:c.*293G>C	ENSP00000492677.1:n.*293G>C
ENST00000262493.10:c.895G>C	ENSP00000262493.6:p.Asp299His
ENST00000564727.1:c.115G>C	ENSP00000454971.1:p.Asp39His
ENST00000568375.1:n.133G>C
NM_020988.2:c.895G>C	NP_066268.1:p.Asp299His
XM_011523003.1:c.769G>C	XP_011521305.1:p.Asp257His
XM_011523003.3:c.769G>C	XP_011521305.1:p.Asp257His
NM_020988.3:c.895G>C MANE Select	NP_066268.1:p.Asp299His