Canonical Allele Identifier: CA2645836317
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039630-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039630G>A , CM000663.2:g.55039630G>A GRCh38
NC_000001.10:g.55505303G>A , CM000663.1:g.55505303G>A GRCh37
NC_000001.9:g.55277891G>A NCBI36
NG_009061.1:g.5084G>A , LRG_275:g.5084G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.-208G>A ENSP00000501161.2:n.-208G>A
ENST00000710286.1:c.150G>A ENSP00000518176.1:p.Val50=
ENST00000673726.1:c.-208G>A ENSP00000501004.1:n.-208G>A
ENST00000302118.5:c.-208G>A MANE Select ENSP00000303208.5:n.-208G>A
NM_174936.3:c.-208G>A , LRG_275t1:c.-208G>A NP_777596.2:n.-208G>A
NM_174936.4:c.-208G>A MANE Select NP_777596.2:n.-208G>A
Search 100 bp 5'
Search 100 bp 3'