Canonical Allele Identifier: CA456286648
Gene: PCLO HGNC NCBI

Linked Data

dbSNP Id: rs1334567192
gnomAD v2: 7-82453721-A-G
gnomAD v4: 7-82824405-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.82824405A>G , CM000669.2:g.82824405A>G GRCh38
NC_000007.13:g.82453721A>G , CM000669.1:g.82453721A>G GRCh37
NC_000007.12:g.82291657A>G NCBI36
NG_047145.1:g.343477T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000333891.14:c.14427T>C MANE Select ENSP00000334319.8:p.Asp4809=
ENST00000333891.13:c.14427T>C ENSP00000334319.8:p.Asp4809=
ENST00000423517.6:c.14427T>C ENSP00000388393.2:p.Asp4809=
ENST00000426442.6:n.922T>C
ENST00000618073.1:c.690T>C ENSP00000482390.1:p.Asp230=
NM_014510.2:c.14427T>C NP_055325.2:p.Asp4809=
NM_033026.5:c.14427T>C NP_149015.2:p.Asp4809=
XM_017012006.2:c.7332T>C XP_016867495.1:p.Asp2444=
XM_017012007.1:c.7305T>C XP_016867496.1:p.Asp2435=
XR_001744643.2:n.15996T>C
NM_033026.6:c.14427T>C MANE Select NP_149015.2:p.Asp4809=
NM_014510.3:c.14427T>C NP_055325.2:p.Asp4809=