Canonical Allele Identifier: CA2690385093
Gene: GNAQ HGNC NCBI

Linked Data

gnomAD v4: 9-77794418-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794418C>A , CM000671.2:g.77794418C>A GRCh38
NC_000009.11:g.80409334C>A , CM000671.1:g.80409334C>A GRCh37
NC_000009.10:g.79599154C>A NCBI36
NG_027904.2:g.241886G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+45G>T MANE Select ENSP00000286548.4:n.735+45G>T
ENST00000286548.8:c.735+45G>T ENSP00000286548.4:n.735+45G>T
NM_002072.4:c.735+45G>T NP_002063.2:n.735+45G>T
XM_017014628.2:c.561+45G>T XP_016870117.1:n.561+45G>T
NM_002072.5:c.735+45G>T MANE Select NP_002063.2:n.735+45G>T