Canonical Allele Identifier: CA924554973
Gene: PRKCQ HGNC NCBI

Linked Data

dbSNP Id: rs11259403
gnomAD v3: 10-6530263-C-G
gnomAD v4: 10-6530263-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.6530263C>G , CM000672.2:g.6530263C>G GRCh38
NC_000010.10:g.6572225C>G , CM000672.1:g.6572225C>G GRCh37
NC_000010.9:g.6612231C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000263125.10:c.-9-15119G>C MANE Select ENSP00000263125.5:n.-9-15119G>C
ENST00000263125.9:c.-9-15119G>C ENSP00000263125.5:n.-9-15119G>C
ENST00000397176.6:c.-9-15119G>C ENSP00000380361.2:n.-9-15119G>C
ENST00000539722.5:c.-323-15119G>C ENSP00000441752.1:n.-323-15119G>C
NM_001242413.2:c.-9-15119G>C NP_001229342.1:n.-9-15119G>C
NM_001282644.1:c.-115-15119G>C NP_001269573.1:n.-115-15119G>C
NM_001282645.1:c.-323-15119G>C NP_001269574.1:n.-323-15119G>C
NM_006257.4:c.-9-15119G>C NP_006248.1:n.-9-15119G>C
XM_011519547.1:c.-9-15119G>C XP_011517849.1:n.-9-15119G>C
NM_001323265.1:c.-9-15119G>C NP_001310194.1:n.-9-15119G>C
NM_001323266.1:c.-321-15119G>C NP_001310195.1:n.-321-15119G>C
NM_001323267.1:c.-115-15119G>C NP_001310196.1:n.-115-15119G>C
NM_001282644.2:c.-115-15119G>C NP_001269573.1:n.-115-15119G>C
NM_001323266.2:c.-321-15119G>C NP_001310195.1:n.-321-15119G>C
NM_006257.5:c.-9-15119G>C MANE Select NP_006248.1:n.-9-15119G>C
NM_001323267.2:c.-115-15119G>C NP_001310196.1:n.-115-15119G>C