Canonical Allele Identifier: CA465578309
Gene: GNAQ HGNC NCBI

Linked Data

gnomAD v4: 9-77794508-T-G
MyVariant Identifiers: chr9:g.80409424T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794508T>G , CM000671.2:g.77794508T>G GRCh38
NC_000009.11:g.80409424T>G , CM000671.1:g.80409424T>G GRCh37
NC_000009.10:g.79599244T>G NCBI36
NG_027904.2:g.241796A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.690A>C MANE Select ENSP00000286548.4:p.Val230=
ENST00000286548.8:c.690A>C ENSP00000286548.4:p.Val230=
NM_002072.4:c.690A>C NP_002063.2:p.Val230=
XM_017014628.2:c.516A>C XP_016870117.1:p.Val172=
NM_002072.5:c.690A>C MANE Select NP_002063.2:p.Val230=
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