Canonical Allele Identifier: CA465578306
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs760629825
MyVariant Identifiers: chr9:g.80409421C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794505C>G , CM000671.2:g.77794505C>G GRCh38
NC_000009.11:g.80409421C>G , CM000671.1:g.80409421C>G GRCh37
NC_000009.10:g.79599241C>G NCBI36
NG_027904.2:g.241799G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.693G>C MANE Select ENSP00000286548.4:p.Ala231=
ENST00000286548.8:c.693G>C ENSP00000286548.4:p.Ala231=
NM_002072.4:c.693G>C NP_002063.2:p.Ala231=
XM_017014628.2:c.519G>C XP_016870117.1:p.Ala173=
NM_002072.5:c.693G>C MANE Select NP_002063.2:p.Ala231=