Canonical Allele Identifier: CA1857429393
Gene: GNAQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794506G= , CM000671.2:g.77794506G= GRCh38
NC_000009.11:g.80409422G= , CM000671.1:g.80409422G= GRCh37
NC_000009.10:g.79599242G= NCBI36
NG_027904.2:g.241798C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.692C= MANE Select ENSP00000286548.4:p.Ala231=
ENST00000286548.8:c.692C= ENSP00000286548.4:p.Ala231=
NM_002072.4:c.692C= NP_002063.2:p.Ala231=
XM_017014628.2:c.518C= XP_016870117.1:p.Ala173=
NM_002072.5:c.692C= MANE Select NP_002063.2:p.Ala231=