Canonical Allele Identifier: CA2690385167
Gene: GNAQ HGNC NCBI

Linked Data

gnomAD v4: 9-77794608-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794608T>C , CM000671.2:g.77794608T>C GRCh38
NC_000009.11:g.80409524T>C , CM000671.1:g.80409524T>C GRCh37
NC_000009.10:g.79599344T>C NCBI36
NG_027904.2:g.241696A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.606-16A>G MANE Select ENSP00000286548.4:n.606-16A>G
ENST00000286548.8:c.606-16A>G ENSP00000286548.4:n.606-16A>G
NM_002072.4:c.606-16A>G NP_002063.2:n.606-16A>G
XM_017014628.2:c.432-16A>G XP_016870117.1:n.432-16A>G
NM_002072.5:c.606-16A>G MANE Select NP_002063.2:n.606-16A>G