Canonical Allele Identifier: CA373997920
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118444580
gnomAD v4: 9-77794589-C-A
MyVariant Identifiers: chr9:g.80409505C>A (hg19) chr9:g.77794589C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794589C>A , CM000671.2:g.77794589C>A GRCh38
NC_000009.11:g.80409505C>A , CM000671.1:g.80409505C>A GRCh37
NC_000009.10:g.79599325C>A NCBI36
NG_027904.2:g.241715G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.609G>T MANE Select ENSP00000286548.4:p.Met203Ile
ENST00000286548.8:c.609G>T ENSP00000286548.4:p.Met203Ile
NM_002072.4:c.609G>T NP_002063.2:p.Met203Ile
XM_017014628.2:c.435G>T XP_016870117.1:p.Met145Ile
NM_002072.5:c.609G>T MANE Select NP_002063.2:p.Met203Ile
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