Canonical Allele Identifier: CA495765683

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 461352
• ClinVar RCV Id: RCV000534911
• dbSNP Id: rs1396370689
• gnomAD v2: 16-56226168-A-G
• gnomAD v3: 16-56192256-A-G
• gnomAD v4: 16-56192256-A-G
• MyVariant Identifiers: chr16:g.56226168A>G (hg19) ; chr16:g.56192256A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56192256A>G , CM000678.2:g.56192256A>G	GRCh38
NC_000016.9:g.56226168A>G , CM000678.1:g.56226168A>G	GRCh37
NC_000016.8:g.54783669A>G	NCBI36
NG_042800.1:g.5918A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.21A>G	ENSP00000262494.7:p.Ala7=
ENST00000262493.12:c.21A>G MANE Select	ENSP00000262493.6:p.Ala7=
ENST00000262494.12:c.21A>G	ENSP00000262494.7:p.Ala7=
ENST00000563661.2:c.21A>G	ENSP00000492694.1:p.Ala7=
ENST00000569295.6:c.21A>G	ENSP00000492271.1:p.Ala7=
ENST00000570235.2:c.21A>G	ENSP00000477740.2:p.Ala7=
ENST00000638705.1:c.21A>G	ENSP00000491223.1:p.Ala7=
ENST00000639966.1:n.36A>G
ENST00000640893.1:c.21A>G	ENSP00000492677.1:p.Ala7=
ENST00000675160.1:c.21A>G	ENSP00000502403.1:p.Ala7=
ENST00000262493.10:c.21A>G	ENSP00000262493.6:p.Ala7=
ENST00000262494.11:c.21A>G	ENSP00000262494.7:p.Ala7=
ENST00000563661.1:n.18A>G
ENST00000569295.5:n.243A>G
ENST00000570235.1:c.21A>G	ENSP00000477740.1:p.Ala7=
NM_020988.2:c.21A>G	NP_066268.1:p.Ala7=
NM_138736.2:c.21A>G	NP_620073.2:p.Ala7=
NM_020988.3:c.21A>G MANE Select	NP_066268.1:p.Ala7=
NM_138736.3:c.21A>G	NP_620073.2:p.Ala7=