Canonical Allele Identifier: CA373997776
Gene: GNAQ HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.670A>G MANE Select ENSP00000286548.4:p.Thr224Ala
ENST00000286548.8:c.670A>G ENSP00000286548.4:p.Thr224Ala
NM_002072.4:c.670A>G NP_002063.2:p.Thr224Ala
XM_017014628.2:c.496A>G XP_016870117.1:p.Thr166Ala
NM_002072.5:c.670A>G MANE Select NP_002063.2:p.Thr224Ala