Canonical Allele Identifier: CA1857429425
Gene: GNAQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794553T= , CM000671.2:g.77794553T= GRCh38
NC_000009.11:g.80409469T= , CM000671.1:g.80409469T= GRCh37
NC_000009.10:g.79599289T= NCBI36
NG_027904.2:g.241751A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.645A= MANE Select ENSP00000286548.4:p.Lys215=
ENST00000286548.8:c.645A= ENSP00000286548.4:p.Lys215=
NM_002072.4:c.645A= NP_002063.2:p.Lys215=
XM_017014628.2:c.471A= XP_016870117.1:p.Lys157=
NM_002072.5:c.645A= MANE Select NP_002063.2:p.Lys215=