Canonical Allele Identifier: CA465578336
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118444217
gnomAD v4: 9-77794565-T-C
MyVariant Identifiers: chr9:g.80409481T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794565T>C , CM000671.2:g.77794565T>C GRCh38
NC_000009.11:g.80409481T>C , CM000671.1:g.80409481T>C GRCh37
NC_000009.10:g.79599301T>C NCBI36
NG_027904.2:g.241739A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.633A>G MANE Select ENSP00000286548.4:p.Ser211=
ENST00000286548.8:c.633A>G ENSP00000286548.4:p.Ser211=
NM_002072.4:c.633A>G NP_002063.2:p.Ser211=
XM_017014628.2:c.459A>G XP_016870117.1:p.Ser153=
NM_002072.5:c.633A>G MANE Select NP_002063.2:p.Ser211=
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