Canonical Allele Identifier: CA465578345
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118444464
MyVariant Identifiers: chr9:g.80409496T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794580T>A , CM000671.2:g.77794580T>A GRCh38
NC_000009.11:g.80409496T>A , CM000671.1:g.80409496T>A GRCh37
NC_000009.10:g.79599316T>A NCBI36
NG_027904.2:g.241724A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.618A>T MANE Select ENSP00000286548.4:p.Val206=
ENST00000286548.8:c.618A>T ENSP00000286548.4:p.Val206=
NM_002072.4:c.618A>T NP_002063.2:p.Val206=
XM_017014628.2:c.444A>T XP_016870117.1:p.Val148=
NM_002072.5:c.618A>T MANE Select NP_002063.2:p.Val206=