Canonical Allele Identifier: CA194717257
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs764292470
gnomAD v4: 9-77794568-C-T
MyVariant Identifiers: chr9:g.80409484C>T (hg19) chr9:g.77794568C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794568C>T , CM000671.2:g.77794568C>T GRCh38
NC_000009.11:g.80409484C>T , CM000671.1:g.80409484C>T GRCh37
NC_000009.10:g.79599304C>T NCBI36
NG_027904.2:g.241736G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.630G>A MANE Select ENSP00000286548.4:p.Arg210=
ENST00000286548.8:c.630G>A ENSP00000286548.4:p.Arg210=
NM_002072.4:c.630G>A NP_002063.2:p.Arg210=
XM_017014628.2:c.456G>A XP_016870117.1:p.Arg152=
NM_002072.5:c.630G>A MANE Select NP_002063.2:p.Arg210=
Search 100 bp 5'
Search 100 bp 3'