Canonical Allele Identifier: CA373997817
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs1826628895

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794544G>T , CM000671.2:g.77794544G>T GRCh38
NC_000009.11:g.80409460G>T , CM000671.1:g.80409460G>T GRCh37
NC_000009.10:g.79599280G>T NCBI36
NG_027904.2:g.241760C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.654C>A MANE Select ENSP00000286548.4:p.His218Gln
ENST00000286548.8:c.654C>A ENSP00000286548.4:p.His218Gln
NM_002072.4:c.654C>A NP_002063.2:p.His218Gln
XM_017014628.2:c.480C>A XP_016870117.1:p.His160Gln
NM_002072.5:c.654C>A MANE Select NP_002063.2:p.His218Gln