Canonical Allele Identifier: CA395954824

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385399G>C (hg19) ; chr16:g.56351487G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351487G>C , CM000678.2:g.56351487G>C	GRCh38
NC_000016.9:g.56385399G>C , CM000678.1:g.56385399G>C	GRCh37
NC_000016.8:g.54942900G>C	NCBI36
NG_042800.1:g.165149G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.827G>C MANE Select	ENSP00000262493.6:p.Gly276Ala
ENST00000562316.6:c.494G>C	ENSP00000457238.2:p.Gly165Ala
ENST00000564727.2:c.131G>C	ENSP00000454971.2:p.Gly44Ala
ENST00000568375.2:c.116-3379G>C
ENST00000638185.1:n.1042G>C
ENST00000638210.1:n.1127G>C
ENST00000638705.1:c.827G>C	ENSP00000491223.1:p.Gly276Ala
ENST00000638836.1:n.737G>C
ENST00000639055.1:n.1548G>C
ENST00000639251.1:n.728G>C
ENST00000639268.1:c.462G>C
ENST00000639341.1:c.352G>C
ENST00000639770.1:c.865G>C	ENSP00000491999.1:n.865G>C
ENST00000640390.1:n.757G>C
ENST00000640469.1:c.191G>C	ENSP00000491875.1:p.Gly64Ala
ENST00000640560.1:n.603G>C
ENST00000640893.1:c.*225G>C	ENSP00000492677.1:n.*225G>C
ENST00000262493.10:c.827G>C	ENSP00000262493.6:p.Gly276Ala
ENST00000564727.1:c.47G>C	ENSP00000454971.1:p.Gly16Ala
ENST00000568375.1:n.116-3379G>C
NM_020988.2:c.827G>C	NP_066268.1:p.Gly276Ala
XM_011523003.1:c.701G>C	XP_011521305.1:p.Gly234Ala
XM_011523003.3:c.701G>C	XP_011521305.1:p.Gly234Ala
NM_020988.3:c.827G>C MANE Select	NP_066268.1:p.Gly276Ala