Canonical Allele Identifier: CA395955067

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388828A>T (hg19) ; chr16:g.56354916A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354916A>T , CM000678.2:g.56354916A>T	GRCh38
NC_000016.9:g.56388828A>T , CM000678.1:g.56388828A>T	GRCh37
NC_000016.8:g.54946329A>T	NCBI36
NG_042800.1:g.168578A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.928A>T MANE Select	ENSP00000262493.6:p.Ser310Cys
ENST00000562316.6:c.545-1187A>T	ENSP00000457238.2:n.545-1187A>T
ENST00000564727.2:c.232A>T	ENSP00000454971.2:p.Ser78Cys
ENST00000568375.2:c.166A>T
ENST00000638185.1:n.1143A>T
ENST00000638210.1:n.1228A>T
ENST00000638705.1:c.928A>T	ENSP00000491223.1:p.Ser310Cys
ENST00000638836.1:n.838A>T
ENST00000639055.1:n.1649A>T
ENST00000639251.1:n.829A>T
ENST00000639268.1:c.563A>T
ENST00000639341.1:c.453A>T
ENST00000639770.1:c.966A>T	ENSP00000491999.1:n.966A>T
ENST00000640390.1:n.858A>T
ENST00000640469.1:c.292A>T	ENSP00000491875.1:p.Ser98Cys
ENST00000640560.1:n.704A>T
ENST00000640893.1:c.*326A>T	ENSP00000492677.1:n.*326A>T
ENST00000262493.10:c.928A>T	ENSP00000262493.6:p.Ser310Cys
ENST00000564727.1:c.148A>T	ENSP00000454971.1:p.Ser50Cys
ENST00000568375.1:n.166A>T
NM_020988.2:c.928A>T	NP_066268.1:p.Ser310Cys
XM_011523003.1:c.802A>T	XP_011521305.1:p.Ser268Cys
XM_011523003.3:c.802A>T	XP_011521305.1:p.Ser268Cys
NM_020988.3:c.928A>T MANE Select	NP_066268.1:p.Ser310Cys