Canonical Allele Identifier: CA5094596
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs755497004
gnomAD v2: 9-80409527-T-G
gnomAD v4: 9-77794611-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794611T>G , CM000671.2:g.77794611T>G GRCh38
NC_000009.11:g.80409527T>G , CM000671.1:g.80409527T>G GRCh37
NC_000009.10:g.79599347T>G NCBI36
NG_027904.2:g.241693A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.606-19A>C MANE Select ENSP00000286548.4:n.606-19A>C
ENST00000286548.8:c.606-19A>C ENSP00000286548.4:n.606-19A>C
NM_002072.4:c.606-19A>C NP_002063.2:n.606-19A>C
XM_017014628.2:c.432-19A>C XP_016870117.1:n.432-19A>C
NM_002072.5:c.606-19A>C MANE Select NP_002063.2:n.606-19A>C