Canonical Allele Identifier: CA495585948

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 2196864
• ClinVar RCV Id: RCV002624513
• dbSNP Id: rs1315805433
• gnomAD v3: 16-56354948-T-C
• gnomAD v4: 16-56354948-T-C
• MyVariant Identifiers: chr16:g.56388860T>C (hg19) ; chr16:g.56354948T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354948T>C , CM000678.2:g.56354948T>C	GRCh38
NC_000016.9:g.56388860T>C , CM000678.1:g.56388860T>C	GRCh37
NC_000016.8:g.54946361T>C	NCBI36
NG_042800.1:g.168610T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.960T>C MANE Select	ENSP00000262493.6:p.Tyr320=
ENST00000562316.6:c.545-1155T>C	ENSP00000457238.2:n.545-1155T>C
ENST00000564727.2:c.264T>C	ENSP00000454971.2:p.Tyr88=
ENST00000568375.2:c.198T>C
ENST00000638210.1:n.1260T>C
ENST00000638705.1:c.960T>C	ENSP00000491223.1:p.Tyr320=
ENST00000638836.1:n.870T>C
ENST00000639251.1:n.861T>C
ENST00000639268.1:c.595T>C
ENST00000639341.1:c.485T>C
ENST00000639770.1:c.998T>C	ENSP00000491999.1:n.998T>C
ENST00000640390.1:n.890T>C
ENST00000640469.1:c.324T>C	ENSP00000491875.1:p.Tyr108=
ENST00000640560.1:n.736T>C
ENST00000640893.1:c.*358T>C	ENSP00000492677.1:n.*358T>C
ENST00000262493.10:c.960T>C	ENSP00000262493.6:p.Tyr320=
ENST00000564727.1:c.180T>C	ENSP00000454971.1:p.Tyr60=
ENST00000568375.1:n.198T>C
NM_020988.2:c.960T>C	NP_066268.1:p.Tyr320=
XM_011523003.1:c.834T>C	XP_011521305.1:p.Tyr278=
XM_011523003.3:c.834T>C	XP_011521305.1:p.Tyr278=
NM_020988.3:c.960T>C MANE Select	NP_066268.1:p.Tyr320=