Canonical Allele Identifier: CA465578285
Gene: GNAQ HGNC NCBI

Linked Data

gnomAD v4: 9-77794463-C-T
MyVariant Identifiers: chr9:g.80409379C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794463C>T , CM000671.2:g.77794463C>T GRCh38
NC_000009.11:g.80409379C>T , CM000671.1:g.80409379C>T GRCh37
NC_000009.10:g.79599199C>T NCBI36
NG_027904.2:g.241841G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735G>A MANE Select ENSP00000286548.4:p.Glu245=
ENST00000286548.8:c.735G>A ENSP00000286548.4:p.Glu245=
NM_002072.4:c.735G>A NP_002063.2:p.Glu245=
XM_017014628.2:c.561G>A XP_016870117.1:p.Glu187=
NM_002072.5:c.735G>A MANE Select NP_002063.2:p.Glu245=