Canonical Allele Identifier: CA395954682

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385341A>C (hg19) ; chr16:g.56351429A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351429A>C , CM000678.2:g.56351429A>C	GRCh38
NC_000016.9:g.56385341A>C , CM000678.1:g.56385341A>C	GRCh37
NC_000016.8:g.54942842A>C	NCBI36
NG_042800.1:g.165091A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.769A>C MANE Select	ENSP00000262493.6:p.Asn257His
ENST00000562316.6:c.436A>C	ENSP00000457238.2:p.Asn146His
ENST00000564727.2:c.73A>C	ENSP00000454971.2:p.Asn25His
ENST00000568375.2:c.116-3437A>C
ENST00000638185.1:n.984A>C
ENST00000638210.1:n.1069A>C
ENST00000638705.1:c.769A>C	ENSP00000491223.1:p.Asn257His
ENST00000638836.1:n.679A>C
ENST00000639055.1:n.1490A>C
ENST00000639251.1:n.670A>C
ENST00000639268.1:c.404A>C
ENST00000639341.1:c.294A>C
ENST00000639770.1:c.807A>C	ENSP00000491999.1:n.807A>C
ENST00000640390.1:n.699A>C
ENST00000640469.1:c.133A>C	ENSP00000491875.1:p.Asn45His
ENST00000640560.1:n.545A>C
ENST00000640893.1:c.*167A>C	ENSP00000492677.1:n.*167A>C
ENST00000262493.10:c.769A>C	ENSP00000262493.6:p.Asn257His
ENST00000568375.1:n.116-3437A>C
NM_020988.2:c.769A>C	NP_066268.1:p.Asn257His
XM_011523003.1:c.643A>C	XP_011521305.1:p.Asn215His
XM_011523003.3:c.643A>C	XP_011521305.1:p.Asn215His
NM_020988.3:c.769A>C MANE Select	NP_066268.1:p.Asn257His