Canonical Allele Identifier: CA2690385226

Gene: GNAQ

Linked Data

• gnomAD v4: 9-77794677-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77794677G>A , CM000671.2:g.77794677G>A	GRCh38
NC_000009.11:g.80409593G>A , CM000671.1:g.80409593G>A	GRCh37
NC_000009.10:g.79599413G>A	NCBI36
NG_027904.2:g.241627C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286548.9:c.606-85C>T MANE Select	ENSP00000286548.4:n.606-85C>T
ENST00000286548.8:c.606-85C>T	ENSP00000286548.4:n.606-85C>T
NM_002072.4:c.606-85C>T	NP_002063.2:n.606-85C>T
XM_017014628.2:c.432-85C>T	XP_016870117.1:n.432-85C>T
NM_002072.5:c.606-85C>T MANE Select	NP_002063.2:n.606-85C>T