Canonical Allele Identifier: CA373997878

Gene: GNAQ

Linked Data

• MyVariant Identifiers: chr9:g.80409485C>A (hg19) ; chr9:g.77794569C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77794569C>A , CM000671.2:g.77794569C>A	GRCh38
NC_000009.11:g.80409485C>A , CM000671.1:g.80409485C>A	GRCh37
NC_000009.10:g.79599305C>A	NCBI36
NG_027904.2:g.241735G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286548.9:c.629G>T MANE Select	ENSP00000286548.4:p.Arg210Met
ENST00000286548.8:c.629G>T	ENSP00000286548.4:p.Arg210Met
NM_002072.4:c.629G>T	NP_002063.2:p.Arg210Met
XM_017014628.2:c.455G>T	XP_016870117.1:p.Arg152Met
NM_002072.5:c.629G>T MANE Select	NP_002063.2:p.Arg210Met