Canonical Allele Identifier: CA2690385124
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118442369
gnomAD v4: 9-77794436-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794436T>A , CM000671.2:g.77794436T>A GRCh38
NC_000009.11:g.80409352T>A , CM000671.1:g.80409352T>A GRCh37
NC_000009.10:g.79599172T>A NCBI36
NG_027904.2:g.241868A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+27A>T MANE Select ENSP00000286548.4:n.735+27A>T
ENST00000286548.8:c.735+27A>T ENSP00000286548.4:n.735+27A>T
NM_002072.4:c.735+27A>T NP_002063.2:n.735+27A>T
XM_017014628.2:c.561+27A>T XP_016870117.1:n.561+27A>T
NM_002072.5:c.735+27A>T MANE Select NP_002063.2:n.735+27A>T
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