Canonical Allele Identifier: CA12958574
Gene: PCSK5 HGNC NCBI

Linked Data

dbSNP Id: rs2261722
gnomAD v2: 9-78869581-G-A
gnomAD v3: 9-76254665-G-A
gnomAD v4: 9-76254665-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.76254665G>A , CM000671.2:g.76254665G>A GRCh38
NC_000009.11:g.78869581G>A , CM000671.1:g.78869581G>A GRCh37
NC_000009.10:g.78059401G>A NCBI36
NG_029445.1:g.369022G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000674117.1:c.3142+13981G>A MANE Select ENSP00000500971.1:n.3142+13981G>A
ENST00000424854.6:c.2161+13981G>A ENSP00000411654.1:n.2161+13981G>A
ENST00000545128.5:c.3142+13981G>A ENSP00000446280.1:n.3142+13981G>A
NM_001190482.1:c.3142+13981G>A NP_001177411.1:n.3142+13981G>A
XM_005252039.2:c.3142+13981G>A XP_005252096.1:n.3142+13981G>A
XM_011518769.1:c.3142+13981G>A XP_011517071.1:n.3142+13981G>A
XM_011518770.1:c.1804+13981G>A XP_011517072.1:n.1804+13981G>A
XM_005252039.4:c.3142+13981G>A XP_005252096.1:n.3142+13981G>A
XM_011518769.3:c.3142+13981G>A XP_011517071.1:n.3142+13981G>A
XM_011518770.2:c.1804+13981G>A XP_011517072.1:n.1804+13981G>A
XM_017014800.1:c.1831+13981G>A XP_016870289.1:n.1831+13981G>A
NM_001372043.1:c.3142+13981G>A MANE Select NP_001358972.1:n.3142+13981G>A
NM_001190482.2:c.3142+13981G>A NP_001177411.1:n.3142+13981G>A