Canonical Allele Identifier: CA340482714
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039908-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039908G>A , CM000663.2:g.55039908G>A GRCh38
NC_000001.10:g.55505581G>A , CM000663.1:g.55505581G>A GRCh37
NC_000001.9:g.55278169G>A NCBI36
NG_009061.1:g.5362G>A , LRG_275:g.5362G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.71G>A ENSP00000501161.2:p.Gly24Asp
ENST00000710286.1:c.428G>A ENSP00000518176.1:p.Gly143Asp
ENST00000673726.1:c.71G>A ENSP00000501004.1:p.Gly24Asp
ENST00000302118.5:c.71G>A MANE Select ENSP00000303208.5:p.Gly24Asp
NM_174936.3:c.71G>A , LRG_275t1:c.71G>A NP_777596.2:p.Gly24Asp
NM_174936.4:c.71G>A MANE Select NP_777596.2:p.Gly24Asp