Canonical Allele Identifier: CA2690385196
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs1466092985
gnomAD v4: 9-77794644-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794644G>A , CM000671.2:g.77794644G>A GRCh38
NC_000009.11:g.80409560G>A , CM000671.1:g.80409560G>A GRCh37
NC_000009.10:g.79599380G>A NCBI36
NG_027904.2:g.241660C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.606-52C>T MANE Select ENSP00000286548.4:n.606-52C>T
ENST00000286548.8:c.606-52C>T ENSP00000286548.4:n.606-52C>T
NM_002072.4:c.606-52C>T NP_002063.2:n.606-52C>T
XM_017014628.2:c.432-52C>T XP_016870117.1:n.432-52C>T
NM_002072.5:c.606-52C>T MANE Select NP_002063.2:n.606-52C>T
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