Canonical Allele Identifier: CA465578291
Gene: GNAQ HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.80409394C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794478C>A , CM000671.2:g.77794478C>A GRCh38
NC_000009.11:g.80409394C>A , CM000671.1:g.80409394C>A GRCh37
NC_000009.10:g.79599214C>A NCBI36
NG_027904.2:g.241826G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.720G>T MANE Select ENSP00000286548.4:p.Val240=
ENST00000286548.8:c.720G>T ENSP00000286548.4:p.Val240=
NM_002072.4:c.720G>T NP_002063.2:p.Val240=
XM_017014628.2:c.546G>T XP_016870117.1:p.Val182=
NM_002072.5:c.720G>T MANE Select NP_002063.2:p.Val240=