Canonical Allele Identifier: CA395954565

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 427004
• ClinVar RCV Id: RCV000488949
• dbSNP Id: rs1085307894
• MyVariant Identifiers: chr16:g.56385297A>C (hg19) ; chr16:g.56351385A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351385A>C , CM000678.2:g.56351385A>C	GRCh38
NC_000016.9:g.56385297A>C , CM000678.1:g.56385297A>C	GRCh37
NC_000016.8:g.54942798A>C	NCBI36
NG_042800.1:g.165047A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.725A>C MANE Select	ENSP00000262493.6:p.Asn242Thr
ENST00000562316.6:c.392A>C	ENSP00000457238.2:p.Asn131Thr
ENST00000564727.2:c.29A>C	ENSP00000454971.2:p.Asn10Thr
ENST00000568375.2:c.116-3481A>C
ENST00000638185.1:n.940A>C
ENST00000638210.1:n.1025A>C
ENST00000638705.1:c.725A>C	ENSP00000491223.1:p.Asn242Thr
ENST00000638836.1:n.635A>C
ENST00000639055.1:n.1446A>C
ENST00000639251.1:n.626A>C
ENST00000639268.1:c.360A>C
ENST00000639341.1:c.250A>C
ENST00000639770.1:c.763A>C	ENSP00000491999.1:n.763A>C
ENST00000640390.1:n.655A>C
ENST00000640469.1:c.89A>C	ENSP00000491875.1:p.Asn30Thr
ENST00000640560.1:n.501A>C
ENST00000640893.1:c.*123A>C	ENSP00000492677.1:n.*123A>C
ENST00000262493.10:c.725A>C	ENSP00000262493.6:p.Asn242Thr
ENST00000568375.1:n.116-3481A>C
NM_020988.2:c.725A>C	NP_066268.1:p.Asn242Thr
XM_011523003.1:c.599A>C	XP_011521305.1:p.Asn200Thr
XM_011523003.3:c.599A>C	XP_011521305.1:p.Asn200Thr
NM_020988.3:c.725A>C MANE Select	NP_066268.1:p.Asn242Thr