Canonical Allele Identifier: CA373997719
Gene: GNAQ HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794501T>G , CM000671.2:g.77794501T>G GRCh38
NC_000009.11:g.80409417T>G , CM000671.1:g.80409417T>G GRCh37
NC_000009.10:g.79599237T>G NCBI36
NG_027904.2:g.241803A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.697A>C MANE Select ENSP00000286548.4:p.Ser233Arg
ENST00000286548.8:c.697A>C ENSP00000286548.4:p.Ser233Arg
NM_002072.4:c.697A>C NP_002063.2:p.Ser233Arg
XM_017014628.2:c.523A>C XP_016870117.1:p.Ser175Arg
NM_002072.5:c.697A>C MANE Select NP_002063.2:p.Ser233Arg