Canonical Allele Identifier: CA2690385065
Gene: GNAQ HGNC NCBI

Linked Data

gnomAD v4: 9-77794396-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794396A>C , CM000671.2:g.77794396A>C GRCh38
NC_000009.11:g.80409312A>C , CM000671.1:g.80409312A>C GRCh37
NC_000009.10:g.79599132A>C NCBI36
NG_027904.2:g.241908T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+67T>G MANE Select ENSP00000286548.4:n.735+67T>G
ENST00000286548.8:c.735+67T>G ENSP00000286548.4:n.735+67T>G
NM_002072.4:c.735+67T>G NP_002063.2:n.735+67T>G
XM_017014628.2:c.561+67T>G XP_016870117.1:n.561+67T>G
NM_002072.5:c.735+67T>G MANE Select NP_002063.2:n.735+67T>G
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