Canonical Allele Identifier: CA395951613

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368723A>T (hg19) ; chr16:g.56334811A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334811A>T , CM000678.2:g.56334811A>T	GRCh38
NC_000016.9:g.56368723A>T , CM000678.1:g.56368723A>T	GRCh37
NC_000016.8:g.54926224A>T	NCBI36
NG_042800.1:g.148473A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.547A>T	ENSP00000262494.7:p.Thr183Ser
ENST00000262493.12:c.547A>T MANE Select	ENSP00000262493.6:p.Thr183Ser
ENST00000262494.12:c.547A>T	ENSP00000262494.7:p.Thr183Ser
ENST00000562316.6:c.214A>T	ENSP00000457238.2:p.Thr72Ser
ENST00000638185.1:n.762A>T
ENST00000638210.1:n.847A>T
ENST00000638705.1:c.547A>T	ENSP00000491223.1:p.Thr183Ser
ENST00000638836.1:n.457A>T
ENST00000639055.1:n.1268A>T
ENST00000639251.1:n.448A>T
ENST00000639268.1:c.229-1920A>T
ENST00000639341.1:c.72A>T
ENST00000639770.1:c.585A>T	ENSP00000491999.1:n.585A>T
ENST00000640390.1:n.477A>T
ENST00000640893.1:c.386A>T	ENSP00000492677.1:p.His129Leu
ENST00000262493.10:c.547A>T	ENSP00000262493.6:p.Thr183Ser
ENST00000262494.11:c.547A>T	ENSP00000262494.7:p.Thr183Ser
ENST00000562316.5:c.286A>T	ENSP00000457238.1:p.Thr96Ser
NM_020988.2:c.547A>T	NP_066268.1:p.Thr183Ser
NM_138736.2:c.547A>T	NP_620073.2:p.Thr183Ser
XM_011523003.1:c.421A>T	XP_011521305.1:p.Thr141Ser
XM_011523003.3:c.421A>T	XP_011521305.1:p.Thr141Ser
NM_020988.3:c.547A>T MANE Select	NP_066268.1:p.Thr183Ser
NM_138736.3:c.547A>T	NP_620073.2:p.Thr183Ser