Canonical Allele Identifier: CA5094600

Gene: GNAQ

Linked Data

• dbSNP Id: rs777924414
• ExAC: 9:80409541 T / C
• gnomAD v2: 9-80409541-T-C
• gnomAD v3: 9-77794625-T-C
• gnomAD v4: 9-77794625-T-C
• MyVariant Identifiers: chr9:g.80409541T>C (hg19) ; chr9:g.77794625T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77794625T>C , CM000671.2:g.77794625T>C	GRCh38
NC_000009.11:g.80409541T>C , CM000671.1:g.80409541T>C	GRCh37
NC_000009.10:g.79599361T>C	NCBI36
NG_027904.2:g.241679A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286548.9:c.606-33A>G MANE Select	ENSP00000286548.4:n.606-33A>G
ENST00000286548.8:c.606-33A>G	ENSP00000286548.4:n.606-33A>G
NM_002072.4:c.606-33A>G	NP_002063.2:n.606-33A>G
XM_017014628.2:c.432-33A>G	XP_016870117.1:n.432-33A>G
NM_002072.5:c.606-33A>G MANE Select	NP_002063.2:n.606-33A>G