Canonical Allele Identifier: CA373997806
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118443928
MyVariant Identifiers: chr9:g.80409456A>T (hg19) chr9:g.77794540A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794540A>T , CM000671.2:g.77794540A>T GRCh38
NC_000009.11:g.80409456A>T , CM000671.1:g.80409456A>T GRCh37
NC_000009.10:g.79599276A>T NCBI36
NG_027904.2:g.241764T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.658T>A MANE Select ENSP00000286548.4:p.Phe220Ile
ENST00000286548.8:c.658T>A ENSP00000286548.4:p.Phe220Ile
NM_002072.4:c.658T>A NP_002063.2:p.Phe220Ile
XM_017014628.2:c.484T>A XP_016870117.1:p.Phe162Ile
NM_002072.5:c.658T>A MANE Select NP_002063.2:p.Phe220Ile
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Search 100 bp 3'