Canonical Allele Identifier: CA373997816

Gene: GNAQ

Linked Data

• MyVariant Identifiers: chr9:g.80409460G>C (hg19) ; chr9:g.77794544G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77794544G>C , CM000671.2:g.77794544G>C	GRCh38
NC_000009.11:g.80409460G>C , CM000671.1:g.80409460G>C	GRCh37
NC_000009.10:g.79599280G>C	NCBI36
NG_027904.2:g.241760C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286548.9:c.654C>G MANE Select	ENSP00000286548.4:p.His218Gln
ENST00000286548.8:c.654C>G	ENSP00000286548.4:p.His218Gln
NM_002072.4:c.654C>G	NP_002063.2:p.His218Gln
XM_017014628.2:c.480C>G	XP_016870117.1:p.His160Gln
NM_002072.5:c.654C>G MANE Select	NP_002063.2:p.His218Gln