Canonical Allele Identifier: CA2683548850
Gene: PCLO HGNC NCBI

Linked Data

gnomAD v4: 7-82824207-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.82824207C>T , CM000669.2:g.82824207C>T GRCh38
NC_000007.13:g.82453523C>T , CM000669.1:g.82453523C>T GRCh37
NC_000007.12:g.82291459C>T NCBI36
NG_047145.1:g.343675G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333891.14:c.14596+29G>A MANE Select ENSP00000334319.8:n.14596+29G>A
ENST00000333891.13:c.14596+29G>A ENSP00000334319.8:n.14596+29G>A
ENST00000423517.6:c.14596+29G>A ENSP00000388393.2:n.14596+29G>A
ENST00000426442.6:n.1091+29G>A
ENST00000618073.1:c.859+29G>A ENSP00000482390.1:n.859+29G>A
NM_014510.2:c.14596+29G>A NP_055325.2:n.14596+29G>A
NM_033026.5:c.14596+29G>A NP_149015.2:n.14596+29G>A
XM_017012006.2:c.7501+29G>A XP_016867495.1:n.7501+29G>A
XM_017012007.1:c.7474+29G>A XP_016867496.1:n.7474+29G>A
XR_001744643.2:n.16165+29G>A
NM_033026.6:c.14596+29G>A MANE Select NP_149015.2:n.14596+29G>A
NM_014510.3:c.14596+29G>A NP_055325.2:n.14596+29G>A