Canonical Allele Identifier: CA373997741
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118443504
MyVariant Identifiers: chr9:g.80409429G>T (hg19) chr9:g.77794513G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794513G>T , CM000671.2:g.77794513G>T GRCh38
NC_000009.11:g.80409429G>T , CM000671.1:g.80409429G>T GRCh37
NC_000009.10:g.79599249G>T NCBI36
NG_027904.2:g.241791C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.685C>A MANE Select ENSP00000286548.4:p.Leu229Ile
ENST00000286548.8:c.685C>A ENSP00000286548.4:p.Leu229Ile
NM_002072.4:c.685C>A NP_002063.2:p.Leu229Ile
XM_017014628.2:c.511C>A XP_016870117.1:p.Leu171Ile
NM_002072.5:c.685C>A MANE Select NP_002063.2:p.Leu229Ile
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