Canonical Allele Identifier: CA12474155
Gene: PCLO HGNC NCBI

Linked Data

dbSNP Id: rs13438494
gnomAD v2: 7-82388714-T-G
gnomAD v3: 7-82759398-T-G
gnomAD v4: 7-82759398-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.82759398T>G , CM000669.2:g.82759398T>G GRCh38
NC_000007.13:g.82388714T>G , CM000669.1:g.82388714T>G GRCh37
NC_000007.12:g.82226650T>G NCBI36
NG_047145.1:g.408484A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000333891.14:c.15289-683A>C MANE Select ENSP00000334319.8:n.15289-683A>C
ENST00000333891.13:c.15289-683A>C ENSP00000334319.8:n.15289-683A>C
NM_033026.5:c.15289-683A>C NP_149015.2:n.15289-683A>C
XM_017012006.2:c.8377-683A>C XP_016867495.1:n.8377-683A>C
XR_001744643.2:n.18241-683A>C
NM_033026.6:c.15289-683A>C MANE Select NP_149015.2:n.15289-683A>C