Canonical Allele Identifier: CA373997719

Gene: GNAQ

Linked Data

• MyVariant Identifiers: chr9:g.80409417T>G (hg19) ; chr9:g.77794501T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77794501T>G , CM000671.2:g.77794501T>G	GRCh38
NC_000009.11:g.80409417T>G , CM000671.1:g.80409417T>G	GRCh37
NC_000009.10:g.79599237T>G	NCBI36
NG_027904.2:g.241803A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286548.9:c.697A>C MANE Select	ENSP00000286548.4:p.Ser233Arg
ENST00000286548.8:c.697A>C	ENSP00000286548.4:p.Ser233Arg
NM_002072.4:c.697A>C	NP_002063.2:p.Ser233Arg
XM_017014628.2:c.523A>C	XP_016870117.1:p.Ser175Arg
NM_002072.5:c.697A>C MANE Select	NP_002063.2:p.Ser233Arg