Canonical Allele Identifier: CA588764524
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs1441059093
gnomAD v2: 9-80409536-T-C
gnomAD v4: 9-77794620-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794620T>C , CM000671.2:g.77794620T>C GRCh38
NC_000009.11:g.80409536T>C , CM000671.1:g.80409536T>C GRCh37
NC_000009.10:g.79599356T>C NCBI36
NG_027904.2:g.241684A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.606-28A>G MANE Select ENSP00000286548.4:n.606-28A>G
ENST00000286548.8:c.606-28A>G ENSP00000286548.4:n.606-28A>G
NM_002072.4:c.606-28A>G NP_002063.2:n.606-28A>G
XM_017014628.2:c.432-28A>G XP_016870117.1:n.432-28A>G
NM_002072.5:c.606-28A>G MANE Select NP_002063.2:n.606-28A>G