Canonical Allele Identifier: CA1103821614
Gene: PCLO HGNC NCBI

Linked Data

dbSNP Id: rs1791871449
gnomAD v3: 7-82824214-T-A
gnomAD v4: 7-82824214-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.82824214T>A , CM000669.2:g.82824214T>A GRCh38
NC_000007.13:g.82453530T>A , CM000669.1:g.82453530T>A GRCh37
NC_000007.12:g.82291466T>A NCBI36
NG_047145.1:g.343668A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333891.14:c.14596+22A>T MANE Select ENSP00000334319.8:n.14596+22A>T
ENST00000333891.13:c.14596+22A>T ENSP00000334319.8:n.14596+22A>T
ENST00000423517.6:c.14596+22A>T ENSP00000388393.2:n.14596+22A>T
ENST00000426442.6:n.1091+22A>T
ENST00000618073.1:c.859+22A>T ENSP00000482390.1:n.859+22A>T
NM_014510.2:c.14596+22A>T NP_055325.2:n.14596+22A>T
NM_033026.5:c.14596+22A>T NP_149015.2:n.14596+22A>T
XM_017012006.2:c.7501+22A>T XP_016867495.1:n.7501+22A>T
XM_017012007.1:c.7474+22A>T XP_016867496.1:n.7474+22A>T
XR_001744643.2:n.16165+22A>T
NM_033026.6:c.14596+22A>T MANE Select NP_149015.2:n.14596+22A>T
NM_014510.3:c.14596+22A>T NP_055325.2:n.14596+22A>T