Canonical Allele Identifier: CA373997828

Gene: GNAQ

Linked Data

• MyVariant Identifiers: chr9:g.80409465T>A (hg19) ; chr9:g.77794549T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77794549T>A , CM000671.2:g.77794549T>A	GRCh38
NC_000009.11:g.80409465T>A , CM000671.1:g.80409465T>A	GRCh37
NC_000009.10:g.79599285T>A	NCBI36
NG_027904.2:g.241755A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286548.9:c.649A>T MANE Select	ENSP00000286548.4:p.Ile217Leu
ENST00000286548.8:c.649A>T	ENSP00000286548.4:p.Ile217Leu
NM_002072.4:c.649A>T	NP_002063.2:p.Ile217Leu
XM_017014628.2:c.475A>T	XP_016870117.1:p.Ile159Leu
NM_002072.5:c.649A>T MANE Select	NP_002063.2:p.Ile217Leu