Canonical Allele Identifier: CA2515857046
Gene: GNAQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794144G>A , CM000671.2:g.77794144G>A GRCh38
NC_000009.11:g.80409060G>A , CM000671.1:g.80409060G>A GRCh37
NC_000009.10:g.79598880G>A NCBI36
NG_027904.2:g.242160C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+319C>T MANE Select ENSP00000286548.4:n.735+319C>T
ENST00000286548.8:c.735+319C>T ENSP00000286548.4:n.735+319C>T
NM_002072.4:c.735+319C>T NP_002063.2:n.735+319C>T
XM_017014628.2:c.561+319C>T XP_016870117.1:n.561+319C>T
NM_002072.5:c.735+319C>T MANE Select NP_002063.2:n.735+319C>T