Canonical Allele Identifier: CA2645837813
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55040097-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55040097G>A , CM000663.2:g.55040097G>A GRCh38
NC_000001.10:g.55505770G>A , CM000663.1:g.55505770G>A GRCh37
NC_000001.9:g.55278358G>A NCBI36
NG_009061.1:g.5551G>A , LRG_275:g.5551G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.207+53G>A ENSP00000501161.2:n.207+53G>A
ENST00000710286.1:c.564+53G>A ENSP00000518176.1:n.564+53G>A
ENST00000673726.1:c.207+53G>A ENSP00000501004.1:n.207+53G>A
ENST00000302118.5:c.207+53G>A MANE Select ENSP00000303208.5:n.207+53G>A
NM_174936.3:c.207+53G>A , LRG_275t1:c.207+53G>A NP_777596.2:n.207+53G>A
NM_174936.4:c.207+53G>A MANE Select NP_777596.2:n.207+53G>A
Search 100 bp 5'
Search 100 bp 3'