Canonical Allele Identifier: CA373997749
Gene: GNAQ HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794516A>G , CM000671.2:g.77794516A>G GRCh38
NC_000009.11:g.80409432A>G , CM000671.1:g.80409432A>G GRCh37
NC_000009.10:g.79599252A>G NCBI36
NG_027904.2:g.241788T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.682T>C MANE Select ENSP00000286548.4:p.Phe228Leu
ENST00000286548.8:c.682T>C ENSP00000286548.4:p.Phe228Leu
NM_002072.4:c.682T>C NP_002063.2:p.Phe228Leu
XM_017014628.2:c.508T>C XP_016870117.1:p.Phe170Leu
NM_002072.5:c.682T>C MANE Select NP_002063.2:p.Phe228Leu