Canonical Allele Identifier: CA5094586
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs775253379
ExAC: 9:80409412 T / C
gnomAD v2: 9-80409412-T-C
gnomAD v4: 9-77794496-T-C
MyVariant Identifiers: chr9:g.80409412T>C (hg19) chr9:g.77794496T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794496T>C , CM000671.2:g.77794496T>C GRCh38
NC_000009.11:g.80409412T>C , CM000671.1:g.80409412T>C GRCh37
NC_000009.10:g.79599232T>C NCBI36
NG_027904.2:g.241808A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.702A>G MANE Select ENSP00000286548.4:p.Glu234=
ENST00000286548.8:c.702A>G ENSP00000286548.4:p.Glu234=
NM_002072.4:c.702A>G NP_002063.2:p.Glu234=
XM_017014628.2:c.528A>G XP_016870117.1:p.Glu176=
NM_002072.5:c.702A>G MANE Select NP_002063.2:p.Glu234=
Search 100 bp 5'
Search 100 bp 3'