Canonical Allele Identifier: CA194717226
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs565221316
gnomAD v2: 9-80409077-G-A
gnomAD v3: 9-77794161-G-A
gnomAD v4: 9-77794161-G-A
MyVariant Identifiers: chr9:g.80409077G>A (hg19) chr9:g.77794161G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794161G>A , CM000671.2:g.77794161G>A GRCh38
NC_000009.11:g.80409077G>A , CM000671.1:g.80409077G>A GRCh37
NC_000009.10:g.79598897G>A NCBI36
NG_027904.2:g.242143C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+302C>T MANE Select ENSP00000286548.4:n.735+302C>T
ENST00000286548.8:c.735+302C>T ENSP00000286548.4:n.735+302C>T
NM_002072.4:c.735+302C>T NP_002063.2:n.735+302C>T
XM_017014628.2:c.561+302C>T XP_016870117.1:n.561+302C>T
NM_002072.5:c.735+302C>T MANE Select NP_002063.2:n.735+302C>T
Search 100 bp 5'
Search 100 bp 3'