Canonical Allele Identifier: CA373997763
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118443641

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794521A>T , CM000671.2:g.77794521A>T GRCh38
NC_000009.11:g.80409437A>T , CM000671.1:g.80409437A>T GRCh37
NC_000009.10:g.79599257A>T NCBI36
NG_027904.2:g.241783T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.677T>A MANE Select ENSP00000286548.4:p.Ile226Asn
ENST00000286548.8:c.677T>A ENSP00000286548.4:p.Ile226Asn
NM_002072.4:c.677T>A NP_002063.2:p.Ile226Asn
XM_017014628.2:c.503T>A XP_016870117.1:p.Ile168Asn
NM_002072.5:c.677T>A MANE Select NP_002063.2:p.Ile226Asn