Canonical Allele Identifier: CA16620213
Gene: GNAO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420523
ClinVar RCV Id: RCV001851189
dbSNP Id: rs1064794533
MyVariant Identifiers: chr16:g.56370758G>A (hg19) chr16:g.56336846G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56336846G>A , CM000678.2:g.56336846G>A GRCh38
NC_000016.9:g.56370758G>A , CM000678.1:g.56370758G>A GRCh37
NC_000016.8:g.54928259G>A NCBI36
NG_042800.1:g.150508G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262494.13:c.709G>A ENSP00000262494.7:p.Glu237Lys
ENST00000262493.12:c.709G>A MANE Select ENSP00000262493.6:p.Glu237Lys
ENST00000262494.12:c.709G>A ENSP00000262494.7:p.Glu237Lys
ENST00000562316.6:c.376G>A ENSP00000457238.2:p.Glu126Lys
ENST00000564727.2:c.13G>A ENSP00000454971.2:p.Glu5Lys
ENST00000568375.2:c.101G>A
ENST00000638185.1:n.924G>A
ENST00000638210.1:n.1009G>A
ENST00000638705.1:c.709G>A ENSP00000491223.1:p.Glu237Lys
ENST00000638836.1:n.619G>A
ENST00000639055.1:n.1430G>A
ENST00000639251.1:n.610G>A
ENST00000639268.1:c.344G>A
ENST00000639341.1:c.234G>A
ENST00000639770.1:c.747G>A ENSP00000491999.1:n.747G>A
ENST00000640390.1:n.639G>A
ENST00000640469.1:c.73G>A ENSP00000491875.1:p.Glu25Lys
ENST00000640560.1:n.485G>A
ENST00000640893.1:c.*107G>A ENSP00000492677.1:n.*107G>A
ENST00000262493.10:c.709G>A ENSP00000262493.6:p.Glu237Lys
ENST00000262494.11:c.709G>A ENSP00000262494.7:p.Glu237Lys
ENST00000568375.1:n.101G>A
NM_020988.2:c.709G>A NP_066268.1:p.Glu237Lys
NM_138736.2:c.709G>A NP_620073.2:p.Glu237Lys
XM_011523003.1:c.583G>A XP_011521305.1:p.Glu195Lys
XM_011523003.3:c.583G>A XP_011521305.1:p.Glu195Lys
NM_020988.3:c.709G>A MANE Select NP_066268.1:p.Glu237Lys
NM_138736.3:c.709G>A NP_620073.2:p.Glu237Lys
Search 100 bp 5'
Search 100 bp 3'