Canonical Allele Identifier: CA2645836018
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039533-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039533C>G , CM000663.2:g.55039533C>G GRCh38
NC_000001.10:g.55505206C>G , CM000663.1:g.55505206C>G GRCh37
NC_000001.9:g.55277794C>G NCBI36
NG_009061.1:g.4987C>G , LRG_275:g.4987C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.-305C>G ENSP00000501161.2:n.-305C>G
ENST00000710286.1:c.53C>G ENSP00000518176.1:p.Pro18Arg
ENST00000673726.1:c.-305C>G ENSP00000501004.1:n.-305C>G
NM_174936.3:c.-305C>G , LRG_275t1:c.-305C>G NP_777596.2:n.-305C>G