Canonical Allele Identifier: CA2645836010
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039527-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039527C>A , CM000663.2:g.55039527C>A GRCh38
NC_000001.10:g.55505200C>A , CM000663.1:g.55505200C>A GRCh37
NC_000001.9:g.55277788C>A NCBI36
NG_009061.1:g.4981C>A , LRG_275:g.4981C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.-311C>A ENSP00000501161.2:n.-311C>A
ENST00000710286.1:c.47C>A ENSP00000518176.1:p.Pro16Gln
ENST00000673726.1:c.-311C>A ENSP00000501004.1:n.-311C>A
NM_174936.3:c.-311C>A , LRG_275t1:c.-311C>A NP_777596.2:n.-311C>A