Canonical Allele Identifier: CA395952373

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370748G>T (hg19) ; chr16:g.56336836G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336836G>T , CM000678.2:g.56336836G>T	GRCh38
NC_000016.9:g.56370748G>T , CM000678.1:g.56370748G>T	GRCh37
NC_000016.8:g.54928249G>T	NCBI36
NG_042800.1:g.150498G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.699G>T	ENSP00000262494.7:p.Gln233His
ENST00000262493.12:c.699G>T MANE Select	ENSP00000262493.6:p.Gln233His
ENST00000262494.12:c.699G>T	ENSP00000262494.7:p.Gln233His
ENST00000562316.6:c.366G>T	ENSP00000457238.2:p.Gln122His
ENST00000564727.2:c.3G>T	ENSP00000454971.2:p.Gln1His
ENST00000568375.2:c.91G>T
ENST00000638185.1:n.914G>T
ENST00000638210.1:n.999G>T
ENST00000638705.1:c.699G>T	ENSP00000491223.1:p.Gln233His
ENST00000638836.1:n.609G>T
ENST00000639055.1:n.1420G>T
ENST00000639251.1:n.600G>T
ENST00000639268.1:c.334G>T
ENST00000639341.1:c.224G>T
ENST00000639770.1:c.737G>T	ENSP00000491999.1:n.737G>T
ENST00000640390.1:n.629G>T
ENST00000640469.1:c.63G>T	ENSP00000491875.1:p.Gln21His
ENST00000640560.1:n.475G>T
ENST00000640893.1:c.*97G>T	ENSP00000492677.1:n.*97G>T
ENST00000262493.10:c.699G>T	ENSP00000262493.6:p.Gln233His
ENST00000262494.11:c.699G>T	ENSP00000262494.7:p.Gln233His
ENST00000568375.1:n.91G>T
NM_020988.2:c.699G>T	NP_066268.1:p.Gln233His
NM_138736.2:c.699G>T	NP_620073.2:p.Gln233His
XM_011523003.1:c.573G>T	XP_011521305.1:p.Gln191His
XM_011523003.3:c.573G>T	XP_011521305.1:p.Gln191His
NM_020988.3:c.699G>T MANE Select	NP_066268.1:p.Gln233His
NM_138736.3:c.699G>T	NP_620073.2:p.Gln233His