Canonical Allele Identifier: CA395955112

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388848C>A (hg19) ; chr16:g.56354936C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354936C>A , CM000678.2:g.56354936C>A	GRCh38
NC_000016.9:g.56388848C>A , CM000678.1:g.56388848C>A	GRCh37
NC_000016.8:g.54946349C>A	NCBI36
NG_042800.1:g.168598C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.948C>A MANE Select	ENSP00000262493.6:p.Asn316Lys
ENST00000562316.6:c.545-1167C>A	ENSP00000457238.2:n.545-1167C>A
ENST00000564727.2:c.252C>A	ENSP00000454971.2:p.Asn84Lys
ENST00000568375.2:c.186C>A
ENST00000638210.1:n.1248C>A
ENST00000638705.1:c.948C>A	ENSP00000491223.1:p.Asn316Lys
ENST00000638836.1:n.858C>A
ENST00000639055.1:n.1669C>A
ENST00000639251.1:n.849C>A
ENST00000639268.1:c.583C>A
ENST00000639341.1:c.473C>A
ENST00000639770.1:c.986C>A	ENSP00000491999.1:n.986C>A
ENST00000640390.1:n.878C>A
ENST00000640469.1:c.312C>A	ENSP00000491875.1:p.Asn104Lys
ENST00000640560.1:n.724C>A
ENST00000640893.1:c.*346C>A	ENSP00000492677.1:n.*346C>A
ENST00000262493.10:c.948C>A	ENSP00000262493.6:p.Asn316Lys
ENST00000564727.1:c.168C>A	ENSP00000454971.1:p.Asn56Lys
ENST00000568375.1:n.186C>A
NM_020988.2:c.948C>A	NP_066268.1:p.Asn316Lys
XM_011523003.1:c.822C>A	XP_011521305.1:p.Asn274Lys
XM_011523003.3:c.822C>A	XP_011521305.1:p.Asn274Lys
NM_020988.3:c.948C>A MANE Select	NP_066268.1:p.Asn316Lys