Canonical Allele Identifier: CA15498541
Gene: PCLO HGNC NCBI

Linked Data

dbSNP Id: rs2715147
gnomAD v2: 7-82448405-C-T
gnomAD v3: 7-82819089-C-T
gnomAD v4: 7-82819089-C-T
MyVariant Identifiers: chr7:g.82448405C>T (hg19) chr7:g.82819089C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.82819089C>T , CM000669.2:g.82819089C>T GRCh38
NC_000007.13:g.82448405C>T , CM000669.1:g.82448405C>T GRCh37
NC_000007.12:g.82286341C>T NCBI36
NG_047145.1:g.348793G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000333891.14:c.14791+3406G>A MANE Select ENSP00000334319.8:n.14791+3406G>A
ENST00000333891.13:c.14791+3406G>A ENSP00000334319.8:n.14791+3406G>A
ENST00000432078.2:n.279+2023G>A
NM_033026.5:c.14791+3406G>A NP_149015.2:n.14791+3406G>A
XM_017012006.2:c.7879+2023G>A XP_016867495.1:n.7879+2023G>A
XR_001744643.2:n.17743+2023G>A
NM_033026.6:c.14791+3406G>A MANE Select NP_149015.2:n.14791+3406G>A
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