Canonical Allele Identifier: CA373997728
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs1826628251
gnomAD v4: 9-77794506-G-T
MyVariant Identifiers: chr9:g.80409422G>T (hg19) chr9:g.77794506G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794506G>T , CM000671.2:g.77794506G>T GRCh38
NC_000009.11:g.80409422G>T , CM000671.1:g.80409422G>T GRCh37
NC_000009.10:g.79599242G>T NCBI36
NG_027904.2:g.241798C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.692C>A MANE Select ENSP00000286548.4:p.Ala231Glu
ENST00000286548.8:c.692C>A ENSP00000286548.4:p.Ala231Glu
NM_002072.4:c.692C>A NP_002063.2:p.Ala231Glu
XM_017014628.2:c.518C>A XP_016870117.1:p.Ala173Glu
NM_002072.5:c.692C>A MANE Select NP_002063.2:p.Ala231Glu
Search 100 bp 5'
Search 100 bp 3'