Canonical Allele Identifier: CA373997764
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs769002669
MyVariant Identifiers: chr9:g.80409438T>A (hg19) chr9:g.77794522T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794522T>A , CM000671.2:g.77794522T>A GRCh38
NC_000009.11:g.80409438T>A , CM000671.1:g.80409438T>A GRCh37
NC_000009.10:g.79599258T>A NCBI36
NG_027904.2:g.241782A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.676A>T MANE Select ENSP00000286548.4:p.Ile226Phe
ENST00000286548.8:c.676A>T ENSP00000286548.4:p.Ile226Phe
NM_002072.4:c.676A>T NP_002063.2:p.Ile226Phe
XM_017014628.2:c.502A>T XP_016870117.1:p.Ile168Phe
NM_002072.5:c.676A>T MANE Select NP_002063.2:p.Ile226Phe
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