Canonical Allele Identifier: CA194717236
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs576223306
gnomAD v3: 9-77794233-T-A
gnomAD v4: 9-77794233-T-A
MyVariant Identifiers: chr9:g.80409149T>A (hg19) chr9:g.77794233T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794233T>A , CM000671.2:g.77794233T>A GRCh38
NC_000009.11:g.80409149T>A , CM000671.1:g.80409149T>A GRCh37
NC_000009.10:g.79598969T>A NCBI36
NG_027904.2:g.242071A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+230A>T MANE Select ENSP00000286548.4:n.735+230A>T
ENST00000286548.8:c.735+230A>T ENSP00000286548.4:n.735+230A>T
NM_002072.4:c.735+230A>T NP_002063.2:n.735+230A>T
XM_017014628.2:c.561+230A>T XP_016870117.1:n.561+230A>T
NM_002072.5:c.735+230A>T MANE Select NP_002063.2:n.735+230A>T
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