Canonical Allele Identifier: CA395955220

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388892A>C (hg19) ; chr16:g.56354980A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354980A>C , CM000678.2:g.56354980A>C	GRCh38
NC_000016.9:g.56388892A>C , CM000678.1:g.56388892A>C	GRCh37
NC_000016.8:g.54946393A>C	NCBI36
NG_042800.1:g.168642A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.992A>C MANE Select	ENSP00000262493.6:p.Asn331Thr
ENST00000562316.6:c.545-1123A>C	ENSP00000457238.2:n.545-1123A>C
ENST00000564727.2:c.296A>C	ENSP00000454971.2:p.Asn99Thr
ENST00000568375.2:c.230A>C
ENST00000638210.1:n.1292A>C
ENST00000638705.1:c.992A>C	ENSP00000491223.1:p.Asn331Thr
ENST00000638836.1:n.902A>C
ENST00000639251.1:n.893A>C
ENST00000639268.1:c.627A>C
ENST00000639341.1:c.517A>C
ENST00000639770.1:c.1030A>C	ENSP00000491999.1:n.1030A>C
ENST00000640390.1:n.922A>C
ENST00000640469.1:c.356A>C	ENSP00000491875.1:p.Asn119Thr
ENST00000640560.1:n.768A>C
ENST00000640893.1:c.*390A>C	ENSP00000492677.1:n.*390A>C
ENST00000262493.10:c.992A>C	ENSP00000262493.6:p.Asn331Thr
ENST00000564727.1:c.212A>C	ENSP00000454971.1:p.Asn71Thr
ENST00000568375.1:n.230A>C
NM_020988.2:c.992A>C	NP_066268.1:p.Asn331Thr
XM_011523003.1:c.866A>C	XP_011521305.1:p.Asn289Thr
XM_011523003.3:c.866A>C	XP_011521305.1:p.Asn289Thr
NM_020988.3:c.992A>C MANE Select	NP_066268.1:p.Asn331Thr