Canonical Allele Identifier: CA395952241

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56336779-T-G
• MyVariant Identifiers: chr16:g.56370691T>G (hg19) ; chr16:g.56336779T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336779T>G , CM000678.2:g.56336779T>G	GRCh38
NC_000016.9:g.56370691T>G , CM000678.1:g.56370691T>G	GRCh37
NC_000016.8:g.54928192T>G	NCBI36
NG_042800.1:g.150441T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.642T>G	ENSP00000262494.7:p.His214Gln
ENST00000262493.12:c.642T>G MANE Select	ENSP00000262493.6:p.His214Gln
ENST00000262494.12:c.642T>G	ENSP00000262494.7:p.His214Gln
ENST00000562316.6:c.309T>G	ENSP00000457238.2:p.His103Gln
ENST00000568375.2:c.34T>G
ENST00000638185.1:n.857T>G
ENST00000638210.1:n.942T>G
ENST00000638705.1:c.642T>G	ENSP00000491223.1:p.His214Gln
ENST00000638836.1:n.552T>G
ENST00000639055.1:n.1363T>G
ENST00000639251.1:n.543T>G
ENST00000639268.1:c.277T>G
ENST00000639341.1:c.167T>G
ENST00000639770.1:c.680T>G	ENSP00000491999.1:n.680T>G
ENST00000640390.1:n.572T>G
ENST00000640469.1:c.6T>G	ENSP00000491875.1:p.His2Gln
ENST00000640560.1:n.418T>G
ENST00000640893.1:c.*40T>G	ENSP00000492677.1:n.*40T>G
ENST00000262493.10:c.642T>G	ENSP00000262493.6:p.His214Gln
ENST00000262494.11:c.642T>G	ENSP00000262494.7:p.His214Gln
ENST00000568375.1:n.34T>G
NM_020988.2:c.642T>G	NP_066268.1:p.His214Gln
NM_138736.2:c.642T>G	NP_620073.2:p.His214Gln
XM_011523003.1:c.516T>G	XP_011521305.1:p.His172Gln
XM_011523003.3:c.516T>G	XP_011521305.1:p.His172Gln
NM_020988.3:c.642T>G MANE Select	NP_066268.1:p.His214Gln
NM_138736.3:c.642T>G	NP_620073.2:p.His214Gln