Canonical Allele Identifier: CA373997702
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118443286
MyVariant Identifiers: chr9:g.80409411A>G (hg19) chr9:g.77794495A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794495A>G , CM000671.2:g.77794495A>G GRCh38
NC_000009.11:g.80409411A>G , CM000671.1:g.80409411A>G GRCh37
NC_000009.10:g.79599231A>G NCBI36
NG_027904.2:g.241809T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.703T>C MANE Select ENSP00000286548.4:p.Tyr235His
ENST00000286548.8:c.703T>C ENSP00000286548.4:p.Tyr235His
NM_002072.4:c.703T>C NP_002063.2:p.Tyr235His
XM_017014628.2:c.529T>C XP_016870117.1:p.Tyr177His
NM_002072.5:c.703T>C MANE Select NP_002063.2:p.Tyr235His
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