Canonical Allele Identifier: CA395954722

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385356G>C (hg19) ; chr16:g.56351444G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351444G>C , CM000678.2:g.56351444G>C	GRCh38
NC_000016.9:g.56385356G>C , CM000678.1:g.56385356G>C	GRCh37
NC_000016.8:g.54942857G>C	NCBI36
NG_042800.1:g.165106G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.784G>C MANE Select	ENSP00000262493.6:p.Asp262His
ENST00000562316.6:c.451G>C	ENSP00000457238.2:p.Asp151His
ENST00000564727.2:c.88G>C	ENSP00000454971.2:p.Asp30His
ENST00000568375.2:c.116-3422G>C
ENST00000638185.1:n.999G>C
ENST00000638210.1:n.1084G>C
ENST00000638705.1:c.784G>C	ENSP00000491223.1:p.Asp262His
ENST00000638836.1:n.694G>C
ENST00000639055.1:n.1505G>C
ENST00000639251.1:n.685G>C
ENST00000639268.1:c.419G>C
ENST00000639341.1:c.309G>C
ENST00000639770.1:c.822G>C	ENSP00000491999.1:n.822G>C
ENST00000640390.1:n.714G>C
ENST00000640469.1:c.148G>C	ENSP00000491875.1:p.Asp50His
ENST00000640560.1:n.560G>C
ENST00000640893.1:c.*182G>C	ENSP00000492677.1:n.*182G>C
ENST00000262493.10:c.784G>C	ENSP00000262493.6:p.Asp262His
ENST00000564727.1:c.4G>C	ENSP00000454971.1:p.Asp2His
ENST00000568375.1:n.116-3422G>C
NM_020988.2:c.784G>C	NP_066268.1:p.Asp262His
XM_011523003.1:c.658G>C	XP_011521305.1:p.Asp220His
XM_011523003.3:c.658G>C	XP_011521305.1:p.Asp220His
NM_020988.3:c.784G>C MANE Select	NP_066268.1:p.Asp262His