Canonical Allele Identifier: CA2690385210
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118445202
gnomAD v4: 9-77794660-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794660C>T , CM000671.2:g.77794660C>T GRCh38
NC_000009.11:g.80409576C>T , CM000671.1:g.80409576C>T GRCh37
NC_000009.10:g.79599396C>T NCBI36
NG_027904.2:g.241644G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.606-68G>A MANE Select ENSP00000286548.4:n.606-68G>A
ENST00000286548.8:c.606-68G>A ENSP00000286548.4:n.606-68G>A
NM_002072.4:c.606-68G>A NP_002063.2:n.606-68G>A
XM_017014628.2:c.432-68G>A XP_016870117.1:n.432-68G>A
NM_002072.5:c.606-68G>A MANE Select NP_002063.2:n.606-68G>A