Canonical Allele Identifier: CA1125711743
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs1826621236
gnomAD v3: 9-77794169-T-C
gnomAD v4: 9-77794169-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794169T>C , CM000671.2:g.77794169T>C GRCh38
NC_000009.11:g.80409085T>C , CM000671.1:g.80409085T>C GRCh37
NC_000009.10:g.79598905T>C NCBI36
NG_027904.2:g.242135A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+294A>G MANE Select ENSP00000286548.4:n.735+294A>G
ENST00000286548.8:c.735+294A>G ENSP00000286548.4:n.735+294A>G
NM_002072.4:c.735+294A>G NP_002063.2:n.735+294A>G
XM_017014628.2:c.561+294A>G XP_016870117.1:n.561+294A>G
NM_002072.5:c.735+294A>G MANE Select NP_002063.2:n.735+294A>G
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