Canonical Allele Identifier: CA373997662
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118442931
MyVariant Identifiers: chr9:g.80409393C>T (hg19) chr9:g.77794477C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794477C>T , CM000671.2:g.77794477C>T GRCh38
NC_000009.11:g.80409393C>T , CM000671.1:g.80409393C>T GRCh37
NC_000009.10:g.79599213C>T NCBI36
NG_027904.2:g.241827G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.721G>A MANE Select ENSP00000286548.4:p.Glu241Lys
ENST00000286548.8:c.721G>A ENSP00000286548.4:p.Glu241Lys
NM_002072.4:c.721G>A NP_002063.2:p.Glu241Lys
XM_017014628.2:c.547G>A XP_016870117.1:p.Glu183Lys
NM_002072.5:c.721G>A MANE Select NP_002063.2:p.Glu241Lys
Search 100 bp 5'
Search 100 bp 3'