Canonical Allele Identifier: CA373997915
Gene: GNAQ HGNC NCBI

Linked Data

gnomAD v4: 9-77794587-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794587A>G , CM000671.2:g.77794587A>G GRCh38
NC_000009.11:g.80409503A>G , CM000671.1:g.80409503A>G GRCh37
NC_000009.10:g.79599323A>G NCBI36
NG_027904.2:g.241717T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.611T>C MANE Select ENSP00000286548.4:p.Val204Ala
ENST00000286548.8:c.611T>C ENSP00000286548.4:p.Val204Ala
NM_002072.4:c.611T>C NP_002063.2:p.Val204Ala
XM_017014628.2:c.437T>C XP_016870117.1:p.Val146Ala
NM_002072.5:c.611T>C MANE Select NP_002063.2:p.Val204Ala