Canonical Allele Identifier: CA102253841
Gene: PDLIM5 HGNC NCBI

Linked Data

dbSNP Id: rs377346741
gnomAD v3: 4-94593460-C-A
gnomAD v4: 4-94593460-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.94593460C>A , CM000666.2:g.94593460C>A GRCh38
NC_000004.11:g.95514611C>A , CM000666.1:g.95514611C>A GRCh37
NC_000004.10:g.95733634C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000317968.9:c.920+7016C>A MANE Select ENSP00000321746.4:n.920+7016C>A
ENST00000317968.8:c.920+7016C>A ENSP00000321746.4:n.920+7016C>A
ENST00000380176.7:n.813+7016C>A
ENST00000437932.5:c.-56+7016C>A ENSP00000398469.2:n.-56+7016C>A
ENST00000503974.5:c.611+7016C>A ENSP00000424297.1:n.611+7016C>A
ENST00000506632.2:c.148+7016C>A
ENST00000509357.5:c.405+7016C>A ENSP00000422833.1:n.405+7016C>A
ENST00000511586.5:n.359+7016C>A
ENST00000514743.5:c.611+7016C>A ENSP00000424360.1:n.611+7016C>A
ENST00000542407.5:c.593+7016C>A ENSP00000442187.2:n.593+7016C>A
ENST00000615540.4:c.611+7016C>A ENSP00000480359.1:n.611+7016C>A
ENST00000627587.2:c.*648+7016C>A ENSP00000486938.1:n.*648+7016C>A
NM_001011513.3:c.593+7016C>A NP_001011513.3:n.593+7016C>A
NM_001256425.1:c.-56+7016C>A NP_001243354.1:n.-56+7016C>A
NM_001256426.1:c.611+7016C>A NP_001243355.1:n.611+7016C>A
NM_001256427.1:c.611+7016C>A NP_001243356.1:n.611+7016C>A
NM_001256428.1:c.554+7016C>A NP_001243357.1:n.554+7016C>A
NM_006457.4:c.920+7016C>A NP_006448.4:n.920+7016C>A
XM_005262693.3:c.938+7016C>A XP_005262750.1:n.938+7016C>A
XM_005262695.3:c.920+7016C>A XP_005262752.1:n.920+7016C>A
XM_005262696.3:c.593+7016C>A XP_005262753.1:n.593+7016C>A
XM_005262698.3:c.611+7016C>A XP_005262755.1:n.611+7016C>A
XM_006714066.2:c.953+7016C>A XP_006714129.1:n.953+7016C>A
XM_006714067.2:c.953+7016C>A XP_006714130.1:n.953+7016C>A
XM_006714068.2:c.626+7016C>A XP_006714131.1:n.626+7016C>A
XM_006714069.2:c.953+7016C>A XP_006714132.1:n.953+7016C>A
XM_006714070.2:c.551+7016C>A XP_006714133.1:n.551+7016C>A
XM_011531543.1:c.536+7016C>A XP_011529845.1:n.536+7016C>A
XM_005262693.5:c.938+7016C>A XP_005262750.1:n.938+7016C>A
XM_005262695.5:c.920+7016C>A XP_005262752.1:n.920+7016C>A
XM_005262696.4:c.593+7016C>A XP_005262753.1:n.593+7016C>A
XM_005262698.4:c.611+7016C>A XP_005262755.1:n.611+7016C>A
XM_006714066.4:c.953+7016C>A XP_006714129.1:n.953+7016C>A
XM_006714068.3:c.626+7016C>A XP_006714131.1:n.626+7016C>A
XM_006714069.4:c.953+7016C>A XP_006714132.1:n.953+7016C>A
XM_006714070.3:c.551+7016C>A XP_006714133.1:n.551+7016C>A
XM_011531543.3:c.536+7016C>A XP_011529845.1:n.536+7016C>A
XM_017007657.2:c.938+7016C>A XP_016863146.1:n.938+7016C>A
XM_017007658.1:c.626+7016C>A XP_016863147.1:n.626+7016C>A
NM_001011513.4:c.593+7016C>A NP_001011513.4:n.593+7016C>A
NM_001256427.2:c.611+7016C>A NP_001243356.2:n.611+7016C>A
NM_001256428.2:c.554+7016C>A NP_001243357.2:n.554+7016C>A
NM_006457.5:c.920+7016C>A MANE Select NP_006448.5:n.920+7016C>A
NM_001256425.2:c.-56+7016C>A NP_001243354.2:n.-56+7016C>A
NM_001256426.2:c.611+7016C>A NP_001243355.2:n.611+7016C>A