Canonical Allele Identifier: CA2645836311
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039626-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039626C>T , CM000663.2:g.55039626C>T GRCh38
NC_000001.10:g.55505299C>T , CM000663.1:g.55505299C>T GRCh37
NC_000001.9:g.55277887C>T NCBI36
NG_009061.1:g.5080C>T , LRG_275:g.5080C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.-212C>T ENSP00000501161.2:n.-212C>T
ENST00000710286.1:c.146C>T ENSP00000518176.1:p.Ala49Val
ENST00000673726.1:c.-212C>T ENSP00000501004.1:n.-212C>T
ENST00000302118.5:c.-212C>T MANE Select ENSP00000303208.5:n.-212C>T
NM_174936.3:c.-212C>T , LRG_275t1:c.-212C>T NP_777596.2:n.-212C>T
NM_174936.4:c.-212C>T MANE Select NP_777596.2:n.-212C>T
Search 100 bp 5'
Search 100 bp 3'