Canonical Allele Identifier: CA395955209

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388888A>C (hg19) ; chr16:g.56354976A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354976A>C , CM000678.2:g.56354976A>C	GRCh38
NC_000016.9:g.56388888A>C , CM000678.1:g.56388888A>C	GRCh37
NC_000016.8:g.54946389A>C	NCBI36
NG_042800.1:g.168638A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.988A>C MANE Select	ENSP00000262493.6:p.Asn330His
ENST00000562316.6:c.545-1127A>C	ENSP00000457238.2:n.545-1127A>C
ENST00000564727.2:c.292A>C	ENSP00000454971.2:p.Asn98His
ENST00000568375.2:c.226A>C
ENST00000638210.1:n.1288A>C
ENST00000638705.1:c.988A>C	ENSP00000491223.1:p.Asn330His
ENST00000638836.1:n.898A>C
ENST00000639251.1:n.889A>C
ENST00000639268.1:c.623A>C
ENST00000639341.1:c.513A>C
ENST00000639770.1:c.1026A>C	ENSP00000491999.1:n.1026A>C
ENST00000640390.1:n.918A>C
ENST00000640469.1:c.352A>C	ENSP00000491875.1:p.Asn118His
ENST00000640560.1:n.764A>C
ENST00000640893.1:c.*386A>C	ENSP00000492677.1:n.*386A>C
ENST00000262493.10:c.988A>C	ENSP00000262493.6:p.Asn330His
ENST00000564727.1:c.208A>C	ENSP00000454971.1:p.Asn70His
ENST00000568375.1:n.226A>C
NM_020988.2:c.988A>C	NP_066268.1:p.Asn330His
XM_011523003.1:c.862A>C	XP_011521305.1:p.Asn288His
XM_011523003.3:c.862A>C	XP_011521305.1:p.Asn288His
NM_020988.3:c.988A>C MANE Select	NP_066268.1:p.Asn330His