Canonical Allele Identifier: CA373997674
Gene: GNAQ HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794485A>C , CM000671.2:g.77794485A>C GRCh38
NC_000009.11:g.80409401A>C , CM000671.1:g.80409401A>C GRCh37
NC_000009.10:g.79599221A>C NCBI36
NG_027904.2:g.241819T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.713T>G MANE Select ENSP00000286548.4:p.Val238Gly
ENST00000286548.8:c.713T>G ENSP00000286548.4:p.Val238Gly
NM_002072.4:c.713T>G NP_002063.2:p.Val238Gly
XM_017014628.2:c.539T>G XP_016870117.1:p.Val180Gly
NM_002072.5:c.713T>G MANE Select NP_002063.2:p.Val238Gly