Canonical Allele Identifier: CA2740074290
Gene: PCSK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.76291234A>C , CM000671.2:g.76291234A>C GRCh38
NC_000009.11:g.78906150A>C , CM000671.1:g.78906150A>C GRCh37
NC_000009.10:g.78095970A>C NCBI36
NG_029445.1:g.405591A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001372043.1:c.3143-999A>C MANE Select NP_001358972.1:n.3143-999A>C
ENST00000674117.1:c.3143-999A>C MANE Select ENSP00000500971.1:n.3143-999A>C
NM_001190482.1:c.3143-999A>C NP_001177411.1:n.3143-999A>C
NM_001190482.2:c.3143-999A>C NP_001177411.1:n.3143-999A>C
ENST00000424854.6:c.2162-999A>C ENSP00000411654.1:n.2162-999A>C
ENST00000545128.5:c.3143-999A>C ENSP00000446280.1:n.3143-999A>C
XM_005252039.2:c.3143-999A>C XP_005252096.1:n.3143-999A>C
XM_005252039.4:c.3143-999A>C XP_005252096.1:n.3143-999A>C
XM_011518769.1:c.3143-999A>C XP_011517071.1:n.3143-999A>C
XM_011518769.3:c.3143-999A>C XP_011517071.1:n.3143-999A>C
XM_011518770.1:c.1805-999A>C XP_011517072.1:n.1805-999A>C
XM_011518770.2:c.1805-999A>C XP_011517072.1:n.1805-999A>C
XM_017014800.1:c.1832-999A>C XP_016870289.1:n.1832-999A>C