Canonical Allele Identifier: CA2645837949
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55043742-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55043742T>C , CM000663.2:g.55043742T>C GRCh38
NC_000001.10:g.55509415T>C , CM000663.1:g.55509415T>C GRCh37
NC_000001.9:g.55282003T>C NCBI36
NG_009061.1:g.9196T>C , LRG_275:g.9196T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.208-101T>C ENSP00000501161.2:n.208-101T>C
ENST00000710286.1:c.565-101T>C ENSP00000518176.1:n.565-101T>C
ENST00000673726.1:c.208-101T>C ENSP00000501004.1:n.208-101T>C
ENST00000673903.1:c.-168-101T>C ENSP00000501257.1:n.-168-101T>C
ENST00000302118.5:c.208-101T>C MANE Select ENSP00000303208.5:n.208-101T>C
NM_174936.3:c.208-101T>C , LRG_275t1:c.208-101T>C NP_777596.2:n.208-101T>C
NR_110451.1:n.182+3339T>C
NM_174936.4:c.208-101T>C MANE Select NP_777596.2:n.208-101T>C
NR_110451.2:n.182+3339T>C
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