Canonical Allele Identifier: CA2579361434
Gene: GNAQ HGNC NCBI

Linked Data

gnomAD v4: 9-77794639-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794639A>G , CM000671.2:g.77794639A>G GRCh38
NC_000009.11:g.80409555A>G , CM000671.1:g.80409555A>G GRCh37
NC_000009.10:g.79599375A>G NCBI36
NG_027904.2:g.241665T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.606-47T>C MANE Select ENSP00000286548.4:n.606-47T>C
ENST00000286548.8:c.606-47T>C ENSP00000286548.4:n.606-47T>C
NM_002072.4:c.606-47T>C NP_002063.2:n.606-47T>C
XM_017014628.2:c.432-47T>C XP_016870117.1:n.432-47T>C
NM_002072.5:c.606-47T>C MANE Select NP_002063.2:n.606-47T>C
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