Canonical Allele Identifier: CA373997908
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs2118444528
MyVariant Identifiers: chr9:g.80409500T>A (hg19) chr9:g.77794584T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794584T>A , CM000671.2:g.77794584T>A GRCh38
NC_000009.11:g.80409500T>A , CM000671.1:g.80409500T>A GRCh37
NC_000009.10:g.79599320T>A NCBI36
NG_027904.2:g.241720A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.614A>T MANE Select ENSP00000286548.4:p.Asp205Val
ENST00000286548.8:c.614A>T ENSP00000286548.4:p.Asp205Val
NM_002072.4:c.614A>T NP_002063.2:p.Asp205Val
XM_017014628.2:c.440A>T XP_016870117.1:p.Asp147Val
NM_002072.5:c.614A>T MANE Select NP_002063.2:p.Asp205Val
Search 100 bp 5'
Search 100 bp 3'