Canonical Allele Identifier: CA395955053

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388823T>A (hg19) ; chr16:g.56354911T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354911T>A , CM000678.2:g.56354911T>A	GRCh38
NC_000016.9:g.56388823T>A , CM000678.1:g.56388823T>A	GRCh37
NC_000016.8:g.54946324T>A	NCBI36
NG_042800.1:g.168573T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.923T>A MANE Select	ENSP00000262493.6:p.Phe308Tyr
ENST00000562316.6:c.545-1192T>A	ENSP00000457238.2:n.545-1192T>A
ENST00000564727.2:c.227T>A	ENSP00000454971.2:p.Phe76Tyr
ENST00000568375.2:c.161T>A
ENST00000638185.1:n.1138T>A
ENST00000638210.1:n.1223T>A
ENST00000638705.1:c.923T>A	ENSP00000491223.1:p.Phe308Tyr
ENST00000638836.1:n.833T>A
ENST00000639055.1:n.1644T>A
ENST00000639251.1:n.824T>A
ENST00000639268.1:c.558T>A
ENST00000639341.1:c.448T>A
ENST00000639770.1:c.961T>A	ENSP00000491999.1:n.961T>A
ENST00000640390.1:n.853T>A
ENST00000640469.1:c.287T>A	ENSP00000491875.1:p.Phe96Tyr
ENST00000640560.1:n.699T>A
ENST00000640893.1:c.*321T>A	ENSP00000492677.1:n.*321T>A
ENST00000262493.10:c.923T>A	ENSP00000262493.6:p.Phe308Tyr
ENST00000564727.1:c.143T>A	ENSP00000454971.1:p.Phe48Tyr
ENST00000568375.1:n.161T>A
NM_020988.2:c.923T>A	NP_066268.1:p.Phe308Tyr
XM_011523003.1:c.797T>A	XP_011521305.1:p.Phe266Tyr
XM_011523003.3:c.797T>A	XP_011521305.1:p.Phe266Tyr
NM_020988.3:c.923T>A MANE Select	NP_066268.1:p.Phe308Tyr