Canonical Allele Identifier: CA465578321
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118443742
MyVariant Identifiers: chr9:g.80409442G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794526G>T , CM000671.2:g.77794526G>T GRCh38
NC_000009.11:g.80409442G>T , CM000671.1:g.80409442G>T GRCh37
NC_000009.10:g.79599262G>T NCBI36
NG_027904.2:g.241778C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.672C>A MANE Select ENSP00000286548.4:p.Thr224=
ENST00000286548.8:c.672C>A ENSP00000286548.4:p.Thr224=
NM_002072.4:c.672C>A NP_002063.2:p.Thr224=
XM_017014628.2:c.498C>A XP_016870117.1:p.Thr166=
NM_002072.5:c.672C>A MANE Select NP_002063.2:p.Thr224=