Canonical Allele Identifier: CA395955275

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 2903707
• ClinVar RCV Id: RCV003753621
• gnomAD v4: 16-56354997-G-A
• COSMIC: COSM971657
• MyVariant Identifiers: chr16:g.56388909G>A (hg19) ; chr16:g.56354997G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354997G>A , CM000678.2:g.56354997G>A	GRCh38
NC_000016.9:g.56388909G>A , CM000678.1:g.56388909G>A	GRCh37
NC_000016.8:g.54946410G>A	NCBI36
NG_042800.1:g.168659G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1009G>A MANE Select	ENSP00000262493.6:p.Asp337Asn
ENST00000562316.6:c.545-1106G>A	ENSP00000457238.2:n.545-1106G>A
ENST00000564727.2:c.303+10G>A	ENSP00000454971.2:n.303+10G>A
ENST00000568375.2:c.247G>A
ENST00000638210.1:n.1309G>A
ENST00000638705.1:c.1009G>A	ENSP00000491223.1:p.Asp337Asn
ENST00000638836.1:n.919G>A
ENST00000639251.1:n.910G>A
ENST00000639268.1:c.644G>A
ENST00000639341.1:c.534G>A
ENST00000639770.1:c.1047G>A	ENSP00000491999.1:n.1047G>A
ENST00000640390.1:n.939G>A
ENST00000640469.1:c.373G>A	ENSP00000491875.1:p.Asp125Asn
ENST00000640560.1:n.785G>A
ENST00000640893.1:c.*407G>A	ENSP00000492677.1:n.*407G>A
ENST00000262493.10:c.1009G>A	ENSP00000262493.6:p.Asp337Asn
ENST00000564727.1:c.229G>A	ENSP00000454971.1:p.Asp77Asn
ENST00000568375.1:n.247G>A
NM_020988.2:c.1009G>A	NP_066268.1:p.Asp337Asn
XM_011523003.1:c.883G>A	XP_011521305.1:p.Asp295Asn
XM_011523003.3:c.883G>A	XP_011521305.1:p.Asp295Asn
NM_020988.3:c.1009G>A MANE Select	NP_066268.1:p.Asp337Asn