Canonical Allele Identifier: CA5094575

Gene: GNAQ

Linked Data

• dbSNP Id: rs780373569
• ExAC: 9:80409337 A / G
• gnomAD v2: 9-80409337-A-G
• gnomAD v4: 9-77794421-A-G
• MyVariant Identifiers: chr9:g.80409337A>G (hg19) ; chr9:g.77794421A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77794421A>G , CM000671.2:g.77794421A>G	GRCh38
NC_000009.11:g.80409337A>G , CM000671.1:g.80409337A>G	GRCh37
NC_000009.10:g.79599157A>G	NCBI36
NG_027904.2:g.241883T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286548.9:c.735+42T>C MANE Select	ENSP00000286548.4:n.735+42T>C
ENST00000286548.8:c.735+42T>C	ENSP00000286548.4:n.735+42T>C
NM_002072.4:c.735+42T>C	NP_002063.2:n.735+42T>C
XM_017014628.2:c.561+42T>C	XP_016870117.1:n.561+42T>C
NM_002072.5:c.735+42T>C MANE Select	NP_002063.2:n.735+42T>C