Canonical Allele Identifier: CA373997700
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118443268
MyVariant Identifiers: chr9:g.80409410T>A (hg19) chr9:g.77794494T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794494T>A , CM000671.2:g.77794494T>A GRCh38
NC_000009.11:g.80409410T>A , CM000671.1:g.80409410T>A GRCh37
NC_000009.10:g.79599230T>A NCBI36
NG_027904.2:g.241810A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.704A>T MANE Select ENSP00000286548.4:p.Tyr235Phe
ENST00000286548.8:c.704A>T ENSP00000286548.4:p.Tyr235Phe
NM_002072.4:c.704A>T NP_002063.2:p.Tyr235Phe
XM_017014628.2:c.530A>T XP_016870117.1:p.Tyr177Phe
NM_002072.5:c.704A>T MANE Select NP_002063.2:p.Tyr235Phe
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