Canonical Allele Identifier: CA395954608

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385310G>C (hg19) ; chr16:g.56351398G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351398G>C , CM000678.2:g.56351398G>C	GRCh38
NC_000016.9:g.56385310G>C , CM000678.1:g.56385310G>C	GRCh37
NC_000016.8:g.54942811G>C	NCBI36
NG_042800.1:g.165060G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.738G>C MANE Select	ENSP00000262493.6:p.Glu246Asp
ENST00000562316.6:c.405G>C	ENSP00000457238.2:p.Glu135Asp
ENST00000564727.2:c.42G>C	ENSP00000454971.2:p.Glu14Asp
ENST00000568375.2:c.116-3468G>C
ENST00000638185.1:n.953G>C
ENST00000638210.1:n.1038G>C
ENST00000638705.1:c.738G>C	ENSP00000491223.1:p.Glu246Asp
ENST00000638836.1:n.648G>C
ENST00000639055.1:n.1459G>C
ENST00000639251.1:n.639G>C
ENST00000639268.1:c.373G>C
ENST00000639341.1:c.263G>C
ENST00000639770.1:c.776G>C	ENSP00000491999.1:n.776G>C
ENST00000640390.1:n.668G>C
ENST00000640469.1:c.102G>C	ENSP00000491875.1:p.Glu34Asp
ENST00000640560.1:n.514G>C
ENST00000640893.1:c.*136G>C	ENSP00000492677.1:n.*136G>C
ENST00000262493.10:c.738G>C	ENSP00000262493.6:p.Glu246Asp
ENST00000568375.1:n.116-3468G>C
NM_020988.2:c.738G>C	NP_066268.1:p.Glu246Asp
XM_011523003.1:c.612G>C	XP_011521305.1:p.Glu204Asp
XM_011523003.3:c.612G>C	XP_011521305.1:p.Glu204Asp
NM_020988.3:c.738G>C MANE Select	NP_066268.1:p.Glu246Asp