Canonical Allele Identifier: CA373997804
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118443908
MyVariant Identifiers: chr9:g.80409455A>T (hg19) chr9:g.77794539A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794539A>T , CM000671.2:g.77794539A>T GRCh38
NC_000009.11:g.80409455A>T , CM000671.1:g.80409455A>T GRCh37
NC_000009.10:g.79599275A>T NCBI36
NG_027904.2:g.241765T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.659T>A MANE Select ENSP00000286548.4:p.Phe220Tyr
ENST00000286548.8:c.659T>A ENSP00000286548.4:p.Phe220Tyr
NM_002072.4:c.659T>A NP_002063.2:p.Phe220Tyr
XM_017014628.2:c.485T>A XP_016870117.1:p.Phe162Tyr
NM_002072.5:c.659T>A MANE Select NP_002063.2:p.Phe220Tyr
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