Canonical Allele Identifier: CA5086337
Gene: PCSK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.75891271T>C , CM000671.2:g.75891271T>C GRCh38
NC_000009.11:g.78506187T>C , CM000671.1:g.78506187T>C GRCh37
NC_000009.10:g.77696007T>C NCBI36
NG_029445.1:g.5628T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376752.9:c.90T>C ENSP00000365943.4:p.Cys30=
ENST00000674117.1:c.90T>C MANE Select ENSP00000500971.1:p.Cys30=
ENST00000376752.8:c.90T>C ENSP00000365943.4:p.Cys30=
ENST00000376767.7:c.90T>C ENSP00000365958.3:p.Cys30=
ENST00000545128.5:c.90T>C ENSP00000446280.1:p.Cys30=
NM_001190482.1:c.90T>C NP_001177411.1:p.Cys30=
NM_006200.5:c.90T>C NP_006191.2:p.Cys30=
NR_120409.1:n.628T>C
XM_005252039.2:c.90T>C XP_005252096.1:p.Cys30=
XM_011518769.1:c.90T>C XP_011517071.1:p.Cys30=
XR_929806.1:n.671T>C
XR_929807.1:n.671T>C
XM_005252039.4:c.90T>C XP_005252096.1:p.Cys30=
XM_011518769.3:c.90T>C XP_011517071.1:p.Cys30=
XR_929806.2:n.626T>C
XR_929807.2:n.626T>C
NM_001372043.1:c.90T>C MANE Select NP_001358972.1:p.Cys30=
NM_006200.6:c.90T>C NP_006191.2:p.Cys30=
NR_120409.2:n.599T>C
NM_001190482.2:c.90T>C NP_001177411.1:p.Cys30=