Canonical Allele Identifier: CA5094596

Gene: GNAQ

Linked Data

• dbSNP Id: rs755497004
• ExAC: 9:80409527 T / G
• gnomAD v2: 9-80409527-T-G
• gnomAD v4: 9-77794611-T-G
• MyVariant Identifiers: chr9:g.80409527T>G (hg19) ; chr9:g.77794611T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77794611T>G , CM000671.2:g.77794611T>G	GRCh38
NC_000009.11:g.80409527T>G , CM000671.1:g.80409527T>G	GRCh37
NC_000009.10:g.79599347T>G	NCBI36
NG_027904.2:g.241693A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286548.9:c.606-19A>C MANE Select	ENSP00000286548.4:n.606-19A>C
ENST00000286548.8:c.606-19A>C	ENSP00000286548.4:n.606-19A>C
NM_002072.4:c.606-19A>C	NP_002063.2:n.606-19A>C
XM_017014628.2:c.432-19A>C	XP_016870117.1:n.432-19A>C
NM_002072.5:c.606-19A>C MANE Select	NP_002063.2:n.606-19A>C