Canonical Allele Identifier: CA16620214
Gene: GNAO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421826
dbSNP Id: rs1064795384

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56351531T>A , CM000678.2:g.56351531T>A GRCh38
NC_000016.9:g.56385443T>A , CM000678.1:g.56385443T>A GRCh37
NC_000016.8:g.54942944T>A NCBI36
NG_042800.1:g.165193T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262493.12:c.871T>A MANE Select ENSP00000262493.6:p.Tyr291Asn
ENST00000562316.6:c.538T>A ENSP00000457238.2:p.Tyr180Asn
ENST00000564727.2:c.175T>A ENSP00000454971.2:p.Tyr59Asn
ENST00000568375.2:c.116-3335T>A
ENST00000638185.1:n.1086T>A
ENST00000638210.1:n.1171T>A
ENST00000638705.1:c.871T>A ENSP00000491223.1:p.Tyr291Asn
ENST00000638836.1:n.781T>A
ENST00000639055.1:n.1592T>A
ENST00000639251.1:n.772T>A
ENST00000639268.1:c.506T>A
ENST00000639341.1:c.396T>A
ENST00000639770.1:c.909T>A ENSP00000491999.1:n.909T>A
ENST00000640390.1:n.801T>A
ENST00000640469.1:c.235T>A ENSP00000491875.1:p.Tyr79Asn
ENST00000640560.1:n.647T>A
ENST00000640893.1:c.*269T>A ENSP00000492677.1:n.*269T>A
ENST00000262493.10:c.871T>A ENSP00000262493.6:p.Tyr291Asn
ENST00000564727.1:c.91T>A ENSP00000454971.1:p.Tyr31Asn
ENST00000568375.1:n.116-3335T>A
NM_020988.2:c.871T>A NP_066268.1:p.Tyr291Asn
XM_011523003.1:c.745T>A XP_011521305.1:p.Tyr249Asn
XM_011523003.3:c.745T>A XP_011521305.1:p.Tyr249Asn
NM_020988.3:c.871T>A MANE Select NP_066268.1:p.Tyr291Asn