Canonical Allele Identifier: CA8063790

Gene: GNAO1

Linked Data

• dbSNP Id: rs763888697
• ExAC: 16:56368688 C / A
• gnomAD v2: 16-56368688-C-A
• gnomAD v4: 16-56334776-C-A
• MyVariant Identifiers: chr16:g.56368688C>A (hg19) ; chr16:g.56334776C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334776C>A , CM000678.2:g.56334776C>A	GRCh38
NC_000016.9:g.56368688C>A , CM000678.1:g.56368688C>A	GRCh37
NC_000016.8:g.54926189C>A	NCBI36
NG_042800.1:g.148438C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.512C>A	ENSP00000262494.7:p.Thr171Asn
ENST00000262493.12:c.512C>A MANE Select	ENSP00000262493.6:p.Thr171Asn
ENST00000262494.12:c.512C>A	ENSP00000262494.7:p.Thr171Asn
ENST00000562316.6:c.179C>A	ENSP00000457238.2:p.Thr60Asn
ENST00000638185.1:n.727C>A
ENST00000638210.1:n.812C>A
ENST00000638705.1:c.512C>A	ENSP00000491223.1:p.Thr171Asn
ENST00000638836.1:n.422C>A
ENST00000639055.1:n.1233C>A
ENST00000639251.1:n.413C>A
ENST00000639268.1:c.229-1955C>A
ENST00000639341.1:c.37C>A
ENST00000639770.1:c.550C>A	ENSP00000491999.1:n.550C>A
ENST00000640390.1:n.442C>A
ENST00000640893.1:c.351C>A	ENSP00000492677.1:p.His117Gln
ENST00000262493.10:c.512C>A	ENSP00000262493.6:p.Thr171Asn
ENST00000262494.11:c.512C>A	ENSP00000262494.7:p.Thr171Asn
ENST00000562316.5:c.251C>A	ENSP00000457238.1:p.Thr84Asn
ENST00000565363.5:c.386C>A
NM_020988.2:c.512C>A	NP_066268.1:p.Thr171Asn
NM_138736.2:c.512C>A	NP_620073.2:p.Thr171Asn
XM_011523003.1:c.386C>A	XP_011521305.1:p.Thr129Asn
XM_011523003.3:c.386C>A	XP_011521305.1:p.Thr129Asn
NM_020988.3:c.512C>A MANE Select	NP_066268.1:p.Thr171Asn
NM_138736.3:c.512C>A	NP_620073.2:p.Thr171Asn