Canonical Allele Identifier: CA194717251
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs565188681
gnomAD v3: 9-77794393-C-T
gnomAD v4: 9-77794393-C-T
MyVariant Identifiers: chr9:g.80409309C>T (hg19) chr9:g.77794393C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794393C>T , CM000671.2:g.77794393C>T GRCh38
NC_000009.11:g.80409309C>T , CM000671.1:g.80409309C>T GRCh37
NC_000009.10:g.79599129C>T NCBI36
NG_027904.2:g.241911G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+70G>A MANE Select ENSP00000286548.4:n.735+70G>A
ENST00000286548.8:c.735+70G>A ENSP00000286548.4:n.735+70G>A
NM_002072.4:c.735+70G>A NP_002063.2:n.735+70G>A
XM_017014628.2:c.561+70G>A XP_016870117.1:n.561+70G>A
NM_002072.5:c.735+70G>A MANE Select NP_002063.2:n.735+70G>A
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