Canonical Allele Identifier: CA5094580

Gene: GNAQ

Linked Data

• dbSNP Id: rs769999222
• ExAC: 9:80409369 G / A
• gnomAD v2: 9-80409369-G-A
• gnomAD v4: 9-77794453-G-A
• MyVariant Identifiers: chr9:g.80409369G>A (hg19) ; chr9:g.77794453G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77794453G>A , CM000671.2:g.77794453G>A	GRCh38
NC_000009.11:g.80409369G>A , CM000671.1:g.80409369G>A	GRCh37
NC_000009.10:g.79599189G>A	NCBI36
NG_027904.2:g.241851C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286548.9:c.735+10C>T MANE Select	ENSP00000286548.4:n.735+10C>T
ENST00000286548.8:c.735+10C>T	ENSP00000286548.4:n.735+10C>T
NM_002072.4:c.735+10C>T	NP_002063.2:n.735+10C>T
XM_017014628.2:c.561+10C>T	XP_016870117.1:n.561+10C>T
NM_002072.5:c.735+10C>T MANE Select	NP_002063.2:n.735+10C>T