Canonical Allele Identifier: CA395954686

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56351430-A-G
• MyVariant Identifiers: chr16:g.56385342A>G (hg19) ; chr16:g.56351430A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351430A>G , CM000678.2:g.56351430A>G	GRCh38
NC_000016.9:g.56385342A>G , CM000678.1:g.56385342A>G	GRCh37
NC_000016.8:g.54942843A>G	NCBI36
NG_042800.1:g.165092A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.770A>G MANE Select	ENSP00000262493.6:p.Asn257Ser
ENST00000562316.6:c.437A>G	ENSP00000457238.2:p.Asn146Ser
ENST00000564727.2:c.74A>G	ENSP00000454971.2:p.Asn25Ser
ENST00000568375.2:c.116-3436A>G
ENST00000638185.1:n.985A>G
ENST00000638210.1:n.1070A>G
ENST00000638705.1:c.770A>G	ENSP00000491223.1:p.Asn257Ser
ENST00000638836.1:n.680A>G
ENST00000639055.1:n.1491A>G
ENST00000639251.1:n.671A>G
ENST00000639268.1:c.405A>G
ENST00000639341.1:c.295A>G
ENST00000639770.1:c.808A>G	ENSP00000491999.1:n.808A>G
ENST00000640390.1:n.700A>G
ENST00000640469.1:c.134A>G	ENSP00000491875.1:p.Asn45Ser
ENST00000640560.1:n.546A>G
ENST00000640893.1:c.*168A>G	ENSP00000492677.1:n.*168A>G
ENST00000262493.10:c.770A>G	ENSP00000262493.6:p.Asn257Ser
ENST00000568375.1:n.116-3436A>G
NM_020988.2:c.770A>G	NP_066268.1:p.Asn257Ser
XM_011523003.1:c.644A>G	XP_011521305.1:p.Asn215Ser
XM_011523003.3:c.644A>G	XP_011521305.1:p.Asn215Ser
NM_020988.3:c.770A>G MANE Select	NP_066268.1:p.Asn257Ser