Canonical Allele Identifier: CA395954662

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385333T>A (hg19) ; chr16:g.56351421T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351421T>A , CM000678.2:g.56351421T>A	GRCh38
NC_000016.9:g.56385333T>A , CM000678.1:g.56385333T>A	GRCh37
NC_000016.8:g.54942834T>A	NCBI36
NG_042800.1:g.165083T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.761T>A MANE Select	ENSP00000262493.6:p.Ile254Asn
ENST00000562316.6:c.428T>A	ENSP00000457238.2:p.Ile143Asn
ENST00000564727.2:c.65T>A	ENSP00000454971.2:p.Ile22Asn
ENST00000568375.2:c.116-3445T>A
ENST00000638185.1:n.976T>A
ENST00000638210.1:n.1061T>A
ENST00000638705.1:c.761T>A	ENSP00000491223.1:p.Ile254Asn
ENST00000638836.1:n.671T>A
ENST00000639055.1:n.1482T>A
ENST00000639251.1:n.662T>A
ENST00000639268.1:c.396T>A
ENST00000639341.1:c.286T>A
ENST00000639770.1:c.799T>A	ENSP00000491999.1:n.799T>A
ENST00000640390.1:n.691T>A
ENST00000640469.1:c.125T>A	ENSP00000491875.1:p.Ile42Asn
ENST00000640560.1:n.537T>A
ENST00000640893.1:c.*159T>A	ENSP00000492677.1:n.*159T>A
ENST00000262493.10:c.761T>A	ENSP00000262493.6:p.Ile254Asn
ENST00000568375.1:n.116-3445T>A
NM_020988.2:c.761T>A	NP_066268.1:p.Ile254Asn
XM_011523003.1:c.635T>A	XP_011521305.1:p.Ile212Asn
XM_011523003.3:c.635T>A	XP_011521305.1:p.Ile212Asn
NM_020988.3:c.761T>A MANE Select	NP_066268.1:p.Ile254Asn