Canonical Allele Identifier: CA1857429413
Gene: GNAQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794533T= , CM000671.2:g.77794533T= GRCh38
NC_000009.11:g.80409449T= , CM000671.1:g.80409449T= GRCh37
NC_000009.10:g.79599269T= NCBI36
NG_027904.2:g.241771A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.665A= MANE Select ENSP00000286548.4:p.Asn222=
ENST00000286548.8:c.665A= ENSP00000286548.4:p.Asn222=
NM_002072.4:c.665A= NP_002063.2:p.Asn222=
XM_017014628.2:c.491A= XP_016870117.1:p.Asn164=
NM_002072.5:c.665A= MANE Select NP_002063.2:p.Asn222=