Canonical Allele Identifier: CA2690385017
Gene: GNAQ HGNC NCBI

Linked Data

gnomAD v4: 9-77794340-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794340C>G , CM000671.2:g.77794340C>G GRCh38
NC_000009.11:g.80409256C>G , CM000671.1:g.80409256C>G GRCh37
NC_000009.10:g.79599076C>G NCBI36
NG_027904.2:g.241964G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+123G>C MANE Select ENSP00000286548.4:n.735+123G>C
ENST00000286548.8:c.735+123G>C ENSP00000286548.4:n.735+123G>C
NM_002072.4:c.735+123G>C NP_002063.2:n.735+123G>C
XM_017014628.2:c.561+123G>C XP_016870117.1:n.561+123G>C
NM_002072.5:c.735+123G>C MANE Select NP_002063.2:n.735+123G>C
Search 100 bp 5'
Search 100 bp 3'