Canonical Allele Identifier: CA867169051
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs1399601333
gnomAD v3: 9-77794205-T-A
gnomAD v4: 9-77794205-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794205T>A , CM000671.2:g.77794205T>A GRCh38
NC_000009.11:g.80409121T>A , CM000671.1:g.80409121T>A GRCh37
NC_000009.10:g.79598941T>A NCBI36
NG_027904.2:g.242099A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+258A>T MANE Select ENSP00000286548.4:n.735+258A>T
ENST00000286548.8:c.735+258A>T ENSP00000286548.4:n.735+258A>T
NM_002072.4:c.735+258A>T NP_002063.2:n.735+258A>T
XM_017014628.2:c.561+258A>T XP_016870117.1:n.561+258A>T
NM_002072.5:c.735+258A>T MANE Select NP_002063.2:n.735+258A>T