Canonical Allele Identifier: CA2690385144
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118442513
gnomAD v4: 9-77794450-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794450A>T , CM000671.2:g.77794450A>T GRCh38
NC_000009.11:g.80409366A>T , CM000671.1:g.80409366A>T GRCh37
NC_000009.10:g.79599186A>T NCBI36
NG_027904.2:g.241854T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+13T>A MANE Select ENSP00000286548.4:n.735+13T>A
ENST00000286548.8:c.735+13T>A ENSP00000286548.4:n.735+13T>A
NM_002072.4:c.735+13T>A NP_002063.2:n.735+13T>A
XM_017014628.2:c.561+13T>A XP_016870117.1:n.561+13T>A
NM_002072.5:c.735+13T>A MANE Select NP_002063.2:n.735+13T>A
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