Canonical Allele Identifier: CA395954560

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385296A>T (hg19) ; chr16:g.56351384A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351384A>T , CM000678.2:g.56351384A>T	GRCh38
NC_000016.9:g.56385296A>T , CM000678.1:g.56385296A>T	GRCh37
NC_000016.8:g.54942797A>T	NCBI36
NG_042800.1:g.165046A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.724A>T MANE Select	ENSP00000262493.6:p.Asn242Tyr
ENST00000562316.6:c.391A>T	ENSP00000457238.2:p.Asn131Tyr
ENST00000564727.2:c.28A>T	ENSP00000454971.2:p.Asn10Tyr
ENST00000568375.2:c.116-3482A>T
ENST00000638185.1:n.939A>T
ENST00000638210.1:n.1024A>T
ENST00000638705.1:c.724A>T	ENSP00000491223.1:p.Asn242Tyr
ENST00000638836.1:n.634A>T
ENST00000639055.1:n.1445A>T
ENST00000639251.1:n.625A>T
ENST00000639268.1:c.359A>T
ENST00000639341.1:c.249A>T
ENST00000639770.1:c.762A>T	ENSP00000491999.1:n.762A>T
ENST00000640390.1:n.654A>T
ENST00000640469.1:c.88A>T	ENSP00000491875.1:p.Asn30Tyr
ENST00000640560.1:n.500A>T
ENST00000640893.1:c.*122A>T	ENSP00000492677.1:n.*122A>T
ENST00000262493.10:c.724A>T	ENSP00000262493.6:p.Asn242Tyr
ENST00000568375.1:n.116-3482A>T
NM_020988.2:c.724A>T	NP_066268.1:p.Asn242Tyr
XM_011523003.1:c.598A>T	XP_011521305.1:p.Asn200Tyr
XM_011523003.3:c.598A>T	XP_011521305.1:p.Asn200Tyr
NM_020988.3:c.724A>T MANE Select	NP_066268.1:p.Asn242Tyr