Canonical Allele Identifier: CA395952197

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370673A>C (hg19) ; chr16:g.56336761A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336761A>C , CM000678.2:g.56336761A>C	GRCh38
NC_000016.9:g.56370673A>C , CM000678.1:g.56370673A>C	GRCh37
NC_000016.8:g.54928174A>C	NCBI36
NG_042800.1:g.150423A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.624A>C	ENSP00000262494.7:p.Glu208Asp
ENST00000262493.12:c.624A>C MANE Select	ENSP00000262493.6:p.Glu208Asp
ENST00000262494.12:c.624A>C	ENSP00000262494.7:p.Glu208Asp
ENST00000562316.6:c.291A>C	ENSP00000457238.2:p.Glu97Asp
ENST00000568375.2:c.16A>C
ENST00000638185.1:n.839A>C
ENST00000638210.1:n.924A>C
ENST00000638705.1:c.624A>C	ENSP00000491223.1:p.Glu208Asp
ENST00000638836.1:n.534A>C
ENST00000639055.1:n.1345A>C
ENST00000639251.1:n.525A>C
ENST00000639268.1:c.259A>C
ENST00000639341.1:c.149A>C
ENST00000639770.1:c.662A>C	ENSP00000491999.1:n.662A>C
ENST00000640390.1:n.554A>C
ENST00000640560.1:n.400A>C
ENST00000640893.1:c.*22A>C	ENSP00000492677.1:n.*22A>C
ENST00000262493.10:c.624A>C	ENSP00000262493.6:p.Glu208Asp
ENST00000262494.11:c.624A>C	ENSP00000262494.7:p.Glu208Asp
ENST00000568375.1:n.16A>C
NM_020988.2:c.624A>C	NP_066268.1:p.Glu208Asp
NM_138736.2:c.624A>C	NP_620073.2:p.Glu208Asp
XM_011523003.1:c.498A>C	XP_011521305.1:p.Glu166Asp
XM_011523003.3:c.498A>C	XP_011521305.1:p.Glu166Asp
NM_020988.3:c.624A>C MANE Select	NP_066268.1:p.Glu208Asp
NM_138736.3:c.624A>C	NP_620073.2:p.Glu208Asp