Canonical Allele Identifier: CA5094598

Gene: GNAQ

Linked Data

• dbSNP Id: rs748158046
• ExAC: 9:80409529 A / G
• gnomAD v2: 9-80409529-A-G
• gnomAD v3: 9-77794613-A-G
• gnomAD v4: 9-77794613-A-G
• MyVariant Identifiers: chr9:g.80409529A>G (hg19) ; chr9:g.77794613A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77794613A>G , CM000671.2:g.77794613A>G	GRCh38
NC_000009.11:g.80409529A>G , CM000671.1:g.80409529A>G	GRCh37
NC_000009.10:g.79599349A>G	NCBI36
NG_027904.2:g.241691T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286548.9:c.606-21T>C MANE Select	ENSP00000286548.4:n.606-21T>C
ENST00000286548.8:c.606-21T>C	ENSP00000286548.4:n.606-21T>C
NM_002072.4:c.606-21T>C	NP_002063.2:n.606-21T>C
XM_017014628.2:c.432-21T>C	XP_016870117.1:n.432-21T>C
NM_002072.5:c.606-21T>C MANE Select	NP_002063.2:n.606-21T>C