Canonical Allele Identifier: CA867169464
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs1487278433
gnomAD v3: 9-77794605-C-T
gnomAD v4: 9-77794605-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794605C>T , CM000671.2:g.77794605C>T GRCh38
NC_000009.11:g.80409521C>T , CM000671.1:g.80409521C>T GRCh37
NC_000009.10:g.79599341C>T NCBI36
NG_027904.2:g.241699G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.606-13G>A MANE Select ENSP00000286548.4:n.606-13G>A
ENST00000286548.8:c.606-13G>A ENSP00000286548.4:n.606-13G>A
NM_002072.4:c.606-13G>A NP_002063.2:n.606-13G>A
XM_017014628.2:c.432-13G>A XP_016870117.1:n.432-13G>A
NM_002072.5:c.606-13G>A MANE Select NP_002063.2:n.606-13G>A