Canonical Allele Identifier: CA2690385130
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs139792373
gnomAD v4: 9-77794440-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794440T>G , CM000671.2:g.77794440T>G GRCh38
NC_000009.11:g.80409356T>G , CM000671.1:g.80409356T>G GRCh37
NC_000009.10:g.79599176T>G NCBI36
NG_027904.2:g.241864A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+23A>C MANE Select ENSP00000286548.4:n.735+23A>C
ENST00000286548.8:c.735+23A>C ENSP00000286548.4:n.735+23A>C
NM_002072.4:c.735+23A>C NP_002063.2:n.735+23A>C
XM_017014628.2:c.561+23A>C XP_016870117.1:n.561+23A>C
NM_002072.5:c.735+23A>C MANE Select NP_002063.2:n.735+23A>C
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