Canonical Allele Identifier: CA2690385055
Gene: GNAQ HGNC NCBI

Linked Data

gnomAD v4: 9-77794385-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794385C>A , CM000671.2:g.77794385C>A GRCh38
NC_000009.11:g.80409301C>A , CM000671.1:g.80409301C>A GRCh37
NC_000009.10:g.79599121C>A NCBI36
NG_027904.2:g.241919G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+78G>T MANE Select ENSP00000286548.4:n.735+78G>T
ENST00000286548.8:c.735+78G>T ENSP00000286548.4:n.735+78G>T
NM_002072.4:c.735+78G>T NP_002063.2:n.735+78G>T
XM_017014628.2:c.561+78G>T XP_016870117.1:n.561+78G>T
NM_002072.5:c.735+78G>T MANE Select NP_002063.2:n.735+78G>T