Canonical Allele Identifier: CA2645840567
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs2100345361
gnomAD v4: 1-55063683-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063683G>A , CM000663.2:g.55063683G>A GRCh38
NC_000001.10:g.55529356G>A , CM000663.1:g.55529356G>A GRCh37
NC_000001.9:g.55301944G>A NCBI36
NG_009061.1:g.29137G>A , LRG_275:g.29137G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*518G>A ENSP00000501161.2:n.*518G>A
ENST00000710286.1:c.*99G>A ENSP00000518176.1:n.*99G>A
ENST00000673903.1:c.*99G>A ENSP00000501257.1:n.*99G>A
ENST00000302118.5:c.*99G>A MANE Select ENSP00000303208.5:n.*99G>A
ENST00000490692.1:n.2724G>A
NM_174936.3:c.*99G>A , LRG_275t1:c.*99G>A NP_777596.2:n.*99G>A
NR_110451.1:n.1785G>A
XM_011541193.1:c.*99G>A XP_011539495.1:n.*99G>A
NM_174936.4:c.*99G>A MANE Select NP_777596.2:n.*99G>A
NR_110451.2:n.1785G>A
Search 100 bp 5'
Search 100 bp 3'