Canonical Allele Identifier: CA373997921

Gene: GNAQ

Linked Data

• MyVariant Identifiers: chr9:g.80409505C>G (hg19) ; chr9:g.77794589C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77794589C>G , CM000671.2:g.77794589C>G	GRCh38
NC_000009.11:g.80409505C>G , CM000671.1:g.80409505C>G	GRCh37
NC_000009.10:g.79599325C>G	NCBI36
NG_027904.2:g.241715G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286548.9:c.609G>C MANE Select	ENSP00000286548.4:p.Met203Ile
ENST00000286548.8:c.609G>C	ENSP00000286548.4:p.Met203Ile
NM_002072.4:c.609G>C	NP_002063.2:p.Met203Ile
XM_017014628.2:c.435G>C	XP_016870117.1:p.Met145Ile
NM_002072.5:c.609G>C MANE Select	NP_002063.2:p.Met203Ile