Canonical Allele Identifier: CA1857429368
Gene: GNAQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794481G= , CM000671.2:g.77794481G= GRCh38
NC_000009.11:g.80409397G= , CM000671.1:g.80409397G= GRCh37
NC_000009.10:g.79599217G= NCBI36
NG_027904.2:g.241823C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.717C= MANE Select ENSP00000286548.4:p.Leu239=
ENST00000286548.8:c.717C= ENSP00000286548.4:p.Leu239=
NM_002072.4:c.717C= NP_002063.2:p.Leu239=
XM_017014628.2:c.543C= XP_016870117.1:p.Leu181=
NM_002072.5:c.717C= MANE Select NP_002063.2:p.Leu239=