Canonical Allele Identifier: CA2645836904
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039815-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039815C>G , CM000663.2:g.55039815C>G GRCh38
NC_000001.10:g.55505488C>G , CM000663.1:g.55505488C>G GRCh37
NC_000001.9:g.55278076C>G NCBI36
NG_009061.1:g.5269C>G , LRG_275:g.5269C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.-23C>G ENSP00000501161.2:n.-23C>G
ENST00000710286.1:c.335C>G ENSP00000518176.1:p.Thr112Arg
ENST00000673726.1:c.-23C>G ENSP00000501004.1:n.-23C>G
ENST00000302118.5:c.-23C>G MANE Select ENSP00000303208.5:n.-23C>G
NM_174936.3:c.-23C>G , LRG_275t1:c.-23C>G NP_777596.2:n.-23C>G
NM_174936.4:c.-23C>G MANE Select NP_777596.2:n.-23C>G
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