Canonical Allele Identifier: CA373997723
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118443373
MyVariant Identifiers: chr9:g.80409420G>A (hg19) chr9:g.77794504G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794504G>A , CM000671.2:g.77794504G>A GRCh38
NC_000009.11:g.80409420G>A , CM000671.1:g.80409420G>A GRCh37
NC_000009.10:g.79599240G>A NCBI36
NG_027904.2:g.241800C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.694C>T MANE Select ENSP00000286548.4:p.Leu232Phe
ENST00000286548.8:c.694C>T ENSP00000286548.4:p.Leu232Phe
NM_002072.4:c.694C>T NP_002063.2:p.Leu232Phe
XM_017014628.2:c.520C>T XP_016870117.1:p.Leu174Phe
NM_002072.5:c.694C>T MANE Select NP_002063.2:p.Leu232Phe
Search 100 bp 5'
Search 100 bp 3'