Canonical Allele Identifier: CA373997727
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs1826628251
MyVariant Identifiers: chr9:g.80409422G>C (hg19) chr9:g.77794506G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794506G>C , CM000671.2:g.77794506G>C GRCh38
NC_000009.11:g.80409422G>C , CM000671.1:g.80409422G>C GRCh37
NC_000009.10:g.79599242G>C NCBI36
NG_027904.2:g.241798C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.692C>G MANE Select ENSP00000286548.4:p.Ala231Gly
ENST00000286548.8:c.692C>G ENSP00000286548.4:p.Ala231Gly
NM_002072.4:c.692C>G NP_002063.2:p.Ala231Gly
XM_017014628.2:c.518C>G XP_016870117.1:p.Ala173Gly
NM_002072.5:c.692C>G MANE Select NP_002063.2:p.Ala231Gly
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