Canonical Allele Identifier: CA373997888
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118444392

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794575C>A , CM000671.2:g.77794575C>A GRCh38
NC_000009.11:g.80409491C>A , CM000671.1:g.80409491C>A GRCh37
NC_000009.10:g.79599311C>A NCBI36
NG_027904.2:g.241729G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.623G>T MANE Select ENSP00000286548.4:p.Gly208Val
ENST00000286548.8:c.623G>T ENSP00000286548.4:p.Gly208Val
NM_002072.4:c.623G>T NP_002063.2:p.Gly208Val
XM_017014628.2:c.449G>T XP_016870117.1:p.Gly150Val
NM_002072.5:c.623G>T MANE Select NP_002063.2:p.Gly208Val