Canonical Allele Identifier: CA2690385085
Gene: GNAQ HGNC NCBI

Linked Data

gnomAD v4: 9-77794411-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794411C>T , CM000671.2:g.77794411C>T GRCh38
NC_000009.11:g.80409327C>T , CM000671.1:g.80409327C>T GRCh37
NC_000009.10:g.79599147C>T NCBI36
NG_027904.2:g.241893G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+52G>A MANE Select ENSP00000286548.4:n.735+52G>A
ENST00000286548.8:c.735+52G>A ENSP00000286548.4:n.735+52G>A
NM_002072.4:c.735+52G>A NP_002063.2:n.735+52G>A
XM_017014628.2:c.561+52G>A XP_016870117.1:n.561+52G>A
NM_002072.5:c.735+52G>A MANE Select NP_002063.2:n.735+52G>A