Canonical Allele Identifier: CA1857429363
Gene: GNAQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794480C= , CM000671.2:g.77794480C= GRCh38
NC_000009.11:g.80409396C= , CM000671.1:g.80409396C= GRCh37
NC_000009.10:g.79599216C= NCBI36
NG_027904.2:g.241824G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.718G= MANE Select ENSP00000286548.4:p.Val240=
ENST00000286548.8:c.718G= ENSP00000286548.4:p.Val240=
NM_002072.4:c.718G= NP_002063.2:p.Val240=
XM_017014628.2:c.544G= XP_016870117.1:p.Val182=
NM_002072.5:c.718G= MANE Select NP_002063.2:p.Val240=