Canonical Allele Identifier: CA465578315
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118443614
gnomAD v4: 9-77794520-G-T
MyVariant Identifiers: chr9:g.80409436G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794520G>T , CM000671.2:g.77794520G>T GRCh38
NC_000009.11:g.80409436G>T , CM000671.1:g.80409436G>T GRCh37
NC_000009.10:g.79599256G>T NCBI36
NG_027904.2:g.241784C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.678C>A MANE Select ENSP00000286548.4:p.Ile226=
ENST00000286548.8:c.678C>A ENSP00000286548.4:p.Ile226=
NM_002072.4:c.678C>A NP_002063.2:p.Ile226=
XM_017014628.2:c.504C>A XP_016870117.1:p.Ile168=
NM_002072.5:c.678C>A MANE Select NP_002063.2:p.Ile226=
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