Canonical Allele Identifier: CA576268396
Gene: PCLO HGNC NCBI

Linked Data

dbSNP Id: rs1254234057
gnomAD v2: 7-82453533-T-G
gnomAD v4: 7-82824217-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.82824217T>G , CM000669.2:g.82824217T>G GRCh38
NC_000007.13:g.82453533T>G , CM000669.1:g.82453533T>G GRCh37
NC_000007.12:g.82291469T>G NCBI36
NG_047145.1:g.343665A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333891.14:c.14596+19A>C MANE Select ENSP00000334319.8:n.14596+19A>C
ENST00000333891.13:c.14596+19A>C ENSP00000334319.8:n.14596+19A>C
ENST00000423517.6:c.14596+19A>C ENSP00000388393.2:n.14596+19A>C
ENST00000426442.6:n.1091+19A>C
ENST00000618073.1:c.859+19A>C ENSP00000482390.1:n.859+19A>C
NM_014510.2:c.14596+19A>C NP_055325.2:n.14596+19A>C
NM_033026.5:c.14596+19A>C NP_149015.2:n.14596+19A>C
XM_017012006.2:c.7501+19A>C XP_016867495.1:n.7501+19A>C
XM_017012007.1:c.7474+19A>C XP_016867496.1:n.7474+19A>C
XR_001744643.2:n.16165+19A>C
NM_033026.6:c.14596+19A>C MANE Select NP_149015.2:n.14596+19A>C
NM_014510.3:c.14596+19A>C NP_055325.2:n.14596+19A>C