Canonical Allele Identifier: CA395954650

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56351415-A-G
• MyVariant Identifiers: chr16:g.56385327A>G (hg19) ; chr16:g.56351415A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351415A>G , CM000678.2:g.56351415A>G	GRCh38
NC_000016.9:g.56385327A>G , CM000678.1:g.56385327A>G	GRCh37
NC_000016.8:g.54942828A>G	NCBI36
NG_042800.1:g.165077A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.755A>G MANE Select	ENSP00000262493.6:p.Asp252Gly
ENST00000562316.6:c.422A>G	ENSP00000457238.2:p.Asp141Gly
ENST00000564727.2:c.59A>G	ENSP00000454971.2:p.Asp20Gly
ENST00000568375.2:c.116-3451A>G
ENST00000638185.1:n.970A>G
ENST00000638210.1:n.1055A>G
ENST00000638705.1:c.755A>G	ENSP00000491223.1:p.Asp252Gly
ENST00000638836.1:n.665A>G
ENST00000639055.1:n.1476A>G
ENST00000639251.1:n.656A>G
ENST00000639268.1:c.390A>G
ENST00000639341.1:c.280A>G
ENST00000639770.1:c.793A>G	ENSP00000491999.1:n.793A>G
ENST00000640390.1:n.685A>G
ENST00000640469.1:c.119A>G	ENSP00000491875.1:p.Asp40Gly
ENST00000640560.1:n.531A>G
ENST00000640893.1:c.*153A>G	ENSP00000492677.1:n.*153A>G
ENST00000262493.10:c.755A>G	ENSP00000262493.6:p.Asp252Gly
ENST00000568375.1:n.116-3451A>G
NM_020988.2:c.755A>G	NP_066268.1:p.Asp252Gly
XM_011523003.1:c.629A>G	XP_011521305.1:p.Asp210Gly
XM_011523003.3:c.629A>G	XP_011521305.1:p.Asp210Gly
NM_020988.3:c.755A>G MANE Select	NP_066268.1:p.Asp252Gly