Canonical Allele Identifier: CA465578311
Gene: GNAQ HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.80409427T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794511T>G , CM000671.2:g.77794511T>G GRCh38
NC_000009.11:g.80409427T>G , CM000671.1:g.80409427T>G GRCh37
NC_000009.10:g.79599247T>G NCBI36
NG_027904.2:g.241793A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.687A>C MANE Select ENSP00000286548.4:p.Leu229=
ENST00000286548.8:c.687A>C ENSP00000286548.4:p.Leu229=
NM_002072.4:c.687A>C NP_002063.2:p.Leu229=
XM_017014628.2:c.513A>C XP_016870117.1:p.Leu171=
NM_002072.5:c.687A>C MANE Select NP_002063.2:p.Leu229=