Canonical Allele Identifier: CA465578313
Gene: GNAQ HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.80409430A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794514A>G , CM000671.2:g.77794514A>G GRCh38
NC_000009.11:g.80409430A>G , CM000671.1:g.80409430A>G GRCh37
NC_000009.10:g.79599250A>G NCBI36
NG_027904.2:g.241790T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.684T>C MANE Select ENSP00000286548.4:p.Phe228=
ENST00000286548.8:c.684T>C ENSP00000286548.4:p.Phe228=
NM_002072.4:c.684T>C NP_002063.2:p.Phe228=
XM_017014628.2:c.510T>C XP_016870117.1:p.Phe170=
NM_002072.5:c.684T>C MANE Select NP_002063.2:p.Phe228=
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