Canonical Allele Identifier: CA2690385192
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118444995
gnomAD v4: 9-77794637-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794637C>A , CM000671.2:g.77794637C>A GRCh38
NC_000009.11:g.80409553C>A , CM000671.1:g.80409553C>A GRCh37
NC_000009.10:g.79599373C>A NCBI36
NG_027904.2:g.241667G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.606-45G>T MANE Select ENSP00000286548.4:n.606-45G>T
ENST00000286548.8:c.606-45G>T ENSP00000286548.4:n.606-45G>T
NM_002072.4:c.606-45G>T NP_002063.2:n.606-45G>T
XM_017014628.2:c.432-45G>T XP_016870117.1:n.432-45G>T
NM_002072.5:c.606-45G>T MANE Select NP_002063.2:n.606-45G>T