Canonical Allele Identifier: CA373997775
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118443774

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794528T>A , CM000671.2:g.77794528T>A GRCh38
NC_000009.11:g.80409444T>A , CM000671.1:g.80409444T>A GRCh37
NC_000009.10:g.79599264T>A NCBI36
NG_027904.2:g.241776A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.670A>T MANE Select ENSP00000286548.4:p.Thr224Ser
ENST00000286548.8:c.670A>T ENSP00000286548.4:p.Thr224Ser
NM_002072.4:c.670A>T NP_002063.2:p.Thr224Ser
XM_017014628.2:c.496A>T XP_016870117.1:p.Thr166Ser
NM_002072.5:c.670A>T MANE Select NP_002063.2:p.Thr224Ser