Canonical Allele Identifier: CA373997724
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118443373
MyVariant Identifiers: chr9:g.80409420G>C (hg19) chr9:g.77794504G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794504G>C , CM000671.2:g.77794504G>C GRCh38
NC_000009.11:g.80409420G>C , CM000671.1:g.80409420G>C GRCh37
NC_000009.10:g.79599240G>C NCBI36
NG_027904.2:g.241800C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.694C>G MANE Select ENSP00000286548.4:p.Leu232Val
ENST00000286548.8:c.694C>G ENSP00000286548.4:p.Leu232Val
NM_002072.4:c.694C>G NP_002063.2:p.Leu232Val
XM_017014628.2:c.520C>G XP_016870117.1:p.Leu174Val
NM_002072.5:c.694C>G MANE Select NP_002063.2:p.Leu232Val
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