Canonical Allele Identifier: CA465578323
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118443788
MyVariant Identifiers: chr9:g.80409445G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794529G>C , CM000671.2:g.77794529G>C GRCh38
NC_000009.11:g.80409445G>C , CM000671.1:g.80409445G>C GRCh37
NC_000009.10:g.79599265G>C NCBI36
NG_027904.2:g.241775C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.669C>G MANE Select ENSP00000286548.4:p.Val223=
ENST00000286548.8:c.669C>G ENSP00000286548.4:p.Val223=
NM_002072.4:c.669C>G NP_002063.2:p.Val223=
XM_017014628.2:c.495C>G XP_016870117.1:p.Val165=
NM_002072.5:c.669C>G MANE Select NP_002063.2:p.Val223=
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