Canonical Allele Identifier: CA373997704

Gene: GNAQ

Linked Data

• MyVariant Identifiers: chr9:g.80409412T>A (hg19) ; chr9:g.77794496T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286548.9:c.702A>T MANE Select	ENSP00000286548.4:p.Glu234Asp
ENST00000286548.8:c.702A>T	ENSP00000286548.4:p.Glu234Asp
NM_002072.4:c.702A>T	NP_002063.2:p.Glu234Asp
XM_017014628.2:c.528A>T	XP_016870117.1:p.Glu176Asp
NM_002072.5:c.702A>T MANE Select	NP_002063.2:p.Glu234Asp