Canonical Allele Identifier: CA588764506
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs1231093822
gnomAD v2: 9-80409140-T-G
gnomAD v3: 9-77794224-T-G
gnomAD v4: 9-77794224-T-G
MyVariant Identifiers: chr9:g.80409140T>G (hg19) chr9:g.77794224T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794224T>G , CM000671.2:g.77794224T>G GRCh38
NC_000009.11:g.80409140T>G , CM000671.1:g.80409140T>G GRCh37
NC_000009.10:g.79598960T>G NCBI36
NG_027904.2:g.242080A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+239A>C MANE Select ENSP00000286548.4:n.735+239A>C
ENST00000286548.8:c.735+239A>C ENSP00000286548.4:n.735+239A>C
NM_002072.4:c.735+239A>C NP_002063.2:n.735+239A>C
XM_017014628.2:c.561+239A>C XP_016870117.1:n.561+239A>C
NM_002072.5:c.735+239A>C MANE Select NP_002063.2:n.735+239A>C
Search 100 bp 5'
Search 100 bp 3'