Canonical Allele Identifier: CA465578314
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118443614
MyVariant Identifiers: chr9:g.80409436G>A (hg19)
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Genomic Alleles

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

Transcript Alleles

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