Canonical Allele Identifier: CA5094601

Gene: GNAQ

Linked Data

• dbSNP Id: rs749544720
• ExAC: 9:80409548 T / G
• gnomAD v2: 9-80409548-T-G
• gnomAD v3: 9-77794632-T-G
• gnomAD v4: 9-77794632-T-G
• MyVariant Identifiers: chr9:g.80409548T>G (hg19) ; chr9:g.77794632T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77794632T>G , CM000671.2:g.77794632T>G	GRCh38
NC_000009.11:g.80409548T>G , CM000671.1:g.80409548T>G	GRCh37
NC_000009.10:g.79599368T>G	NCBI36
NG_027904.2:g.241672A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286548.9:c.606-40A>C MANE Select	ENSP00000286548.4:n.606-40A>C
ENST00000286548.8:c.606-40A>C	ENSP00000286548.4:n.606-40A>C
NM_002072.4:c.606-40A>C	NP_002063.2:n.606-40A>C
XM_017014628.2:c.432-40A>C	XP_016870117.1:n.432-40A>C
NM_002072.5:c.606-40A>C MANE Select	NP_002063.2:n.606-40A>C