Canonical Allele Identifier: CA2645836303
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039622-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039622C>A , CM000663.2:g.55039622C>A GRCh38
NC_000001.10:g.55505295C>A , CM000663.1:g.55505295C>A GRCh37
NC_000001.9:g.55277883C>A NCBI36
NG_009061.1:g.5076C>A , LRG_275:g.5076C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.-216C>A ENSP00000501161.2:n.-216C>A
ENST00000710286.1:c.142C>A ENSP00000518176.1:p.Gln48Lys
ENST00000673726.1:c.-216C>A ENSP00000501004.1:n.-216C>A
ENST00000302118.5:c.-216C>A MANE Select ENSP00000303208.5:n.-216C>A
NM_174936.3:c.-216C>A , LRG_275t1:c.-216C>A NP_777596.2:n.-216C>A
NM_174936.4:c.-216C>A MANE Select NP_777596.2:n.-216C>A
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