Canonical Allele Identifier: CA8063789

Gene: GNAO1

Linked Data

• dbSNP Id: rs762554588
• ExAC: 16:56368683 G / C
• gnomAD v2: 16-56368683-G-C
• MyVariant Identifiers: chr16:g.56368683G>C (hg19) ; chr16:g.56334771G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334771G>C , CM000678.2:g.56334771G>C	GRCh38
NC_000016.9:g.56368683G>C , CM000678.1:g.56368683G>C	GRCh37
NC_000016.8:g.54926184G>C	NCBI36
NG_042800.1:g.148433G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.507G>C	ENSP00000262494.7:p.Gln169His
ENST00000262493.12:c.507G>C MANE Select	ENSP00000262493.6:p.Gln169His
ENST00000262494.12:c.507G>C	ENSP00000262494.7:p.Gln169His
ENST00000562316.6:c.174G>C	ENSP00000457238.2:p.Gln58His
ENST00000638185.1:n.722G>C
ENST00000638210.1:n.807G>C
ENST00000638705.1:c.507G>C	ENSP00000491223.1:p.Gln169His
ENST00000638836.1:n.417G>C
ENST00000639055.1:n.1228G>C
ENST00000639251.1:n.408G>C
ENST00000639268.1:c.229-1960G>C
ENST00000639341.1:c.32G>C
ENST00000639770.1:c.545G>C	ENSP00000491999.1:n.545G>C
ENST00000640390.1:n.437G>C
ENST00000640893.1:c.346G>C	ENSP00000492677.1:p.Ala116Pro
ENST00000262493.10:c.507G>C	ENSP00000262493.6:p.Gln169His
ENST00000262494.11:c.507G>C	ENSP00000262494.7:p.Gln169His
ENST00000562316.5:c.246G>C	ENSP00000457238.1:p.Gln82His
ENST00000563440.1:c.246G>C	ENSP00000455774.1:p.Gln82His
ENST00000565363.5:c.381G>C	ENSP00000454728.1:p.Gln127His
NM_020988.2:c.507G>C	NP_066268.1:p.Gln169His
NM_138736.2:c.507G>C	NP_620073.2:p.Gln169His
XM_011523003.1:c.381G>C	XP_011521305.1:p.Gln127His
XM_011523003.3:c.381G>C	XP_011521305.1:p.Gln127His
NM_020988.3:c.507G>C MANE Select	NP_066268.1:p.Gln169His
NM_138736.3:c.507G>C	NP_620073.2:p.Gln169His