Canonical Allele Identifier: CA2224108771

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 2019159
• ClinVar RCV Id: RCV002846892
• dbSNP Id: rs1596881898
• gnomAD v4: 16-56351544-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351544G>C , CM000678.2:g.56351544G>C	GRCh38
NC_000016.9:g.56385456G>C , CM000678.1:g.56385456G>C	GRCh37
NC_000016.8:g.54942957G>C	NCBI36
NG_042800.1:g.165206G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.877+7G>C MANE Select	ENSP00000262493.6:n.877+7G>C
ENST00000562316.6:c.544+7G>C	ENSP00000457238.2:n.544+7G>C
ENST00000564727.2:c.181+7G>C	ENSP00000454971.2:n.181+7G>C
ENST00000568375.2:c.116-3322G>C
ENST00000638185.1:n.1092+7G>C
ENST00000638210.1:n.1177+7G>C
ENST00000638705.1:c.877+7G>C	ENSP00000491223.1:n.877+7G>C
ENST00000638836.1:n.787+7G>C
ENST00000639055.1:n.1598+7G>C
ENST00000639251.1:n.778+7G>C
ENST00000639268.1:c.512+7G>C
ENST00000639341.1:c.402+7G>C
ENST00000639770.1:c.915+7G>C	ENSP00000491999.1:n.915+7G>C
ENST00000640390.1:n.807+7G>C
ENST00000640469.1:c.241+7G>C	ENSP00000491875.1:n.241+7G>C
ENST00000640560.1:n.653+7G>C
ENST00000640893.1:c.*275+7G>C	ENSP00000492677.1:n.*275+7G>C
ENST00000262493.10:c.877+7G>C	ENSP00000262493.6:n.877+7G>C
ENST00000564727.1:c.97+7G>C	ENSP00000454971.1:n.97+7G>C
ENST00000568375.1:n.116-3322G>C
NM_020988.2:c.877+7G>C	NP_066268.1:n.877+7G>C
XM_011523003.1:c.751+7G>C	XP_011521305.1:n.751+7G>C
XM_011523003.3:c.751+7G>C	XP_011521305.1:n.751+7G>C
NM_020988.3:c.877+7G>C MANE Select	NP_066268.1:n.877+7G>C