Canonical Allele Identifier: CA373997669
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118443066
MyVariant Identifiers: chr9:g.80409398A>T (hg19) chr9:g.77794482A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794482A>T , CM000671.2:g.77794482A>T GRCh38
NC_000009.11:g.80409398A>T , CM000671.1:g.80409398A>T GRCh37
NC_000009.10:g.79599218A>T NCBI36
NG_027904.2:g.241822T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.716T>A MANE Select ENSP00000286548.4:p.Leu239His
ENST00000286548.8:c.716T>A ENSP00000286548.4:p.Leu239His
NM_002072.4:c.716T>A NP_002063.2:p.Leu239His
XM_017014628.2:c.542T>A XP_016870117.1:p.Leu181His
NM_002072.5:c.716T>A MANE Select NP_002063.2:p.Leu239His
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