Canonical Allele Identifier: CA465578293
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118442958
gnomAD v4: 9-77794478-C-T
MyVariant Identifiers: chr9:g.80409394C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794478C>T , CM000671.2:g.77794478C>T GRCh38
NC_000009.11:g.80409394C>T , CM000671.1:g.80409394C>T GRCh37
NC_000009.10:g.79599214C>T NCBI36
NG_027904.2:g.241826G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.720G>A MANE Select ENSP00000286548.4:p.Val240=
ENST00000286548.8:c.720G>A ENSP00000286548.4:p.Val240=
NM_002072.4:c.720G>A NP_002063.2:p.Val240=
XM_017014628.2:c.546G>A XP_016870117.1:p.Val182=
NM_002072.5:c.720G>A MANE Select NP_002063.2:p.Val240=
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Search 100 bp 3'