Canonical Allele Identifier: CA1477708815
Gene: PDLIM5 HGNC NCBI

Linked Data

dbSNP Id: rs1736835754
gnomAD v3: 4-94593517-G-T
gnomAD v4: 4-94593517-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.94593517G>T , CM000666.2:g.94593517G>T GRCh38
NC_000004.11:g.95514668G>T , CM000666.1:g.95514668G>T GRCh37
NC_000004.10:g.95733691G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000317968.9:c.920+7073G>T MANE Select ENSP00000321746.4:n.920+7073G>T
ENST00000317968.8:c.920+7073G>T ENSP00000321746.4:n.920+7073G>T
ENST00000380176.7:n.813+7073G>T
ENST00000437932.5:c.-56+7073G>T ENSP00000398469.2:n.-56+7073G>T
ENST00000503974.5:c.611+7073G>T ENSP00000424297.1:n.611+7073G>T
ENST00000506632.2:c.148+7073G>T
ENST00000509357.5:c.405+7073G>T ENSP00000422833.1:n.405+7073G>T
ENST00000511586.5:n.359+7073G>T
ENST00000514743.5:c.611+7073G>T ENSP00000424360.1:n.611+7073G>T
ENST00000542407.5:c.593+7073G>T ENSP00000442187.2:n.593+7073G>T
ENST00000615540.4:c.611+7073G>T ENSP00000480359.1:n.611+7073G>T
ENST00000627587.2:c.*648+7073G>T ENSP00000486938.1:n.*648+7073G>T
NM_001011513.3:c.593+7073G>T NP_001011513.3:n.593+7073G>T
NM_001256425.1:c.-56+7073G>T NP_001243354.1:n.-56+7073G>T
NM_001256426.1:c.611+7073G>T NP_001243355.1:n.611+7073G>T
NM_001256427.1:c.611+7073G>T NP_001243356.1:n.611+7073G>T
NM_001256428.1:c.554+7073G>T NP_001243357.1:n.554+7073G>T
NM_006457.4:c.920+7073G>T NP_006448.4:n.920+7073G>T
XM_005262693.3:c.938+7073G>T XP_005262750.1:n.938+7073G>T
XM_005262695.3:c.920+7073G>T XP_005262752.1:n.920+7073G>T
XM_005262696.3:c.593+7073G>T XP_005262753.1:n.593+7073G>T
XM_005262698.3:c.611+7073G>T XP_005262755.1:n.611+7073G>T
XM_006714066.2:c.953+7073G>T XP_006714129.1:n.953+7073G>T
XM_006714067.2:c.953+7073G>T XP_006714130.1:n.953+7073G>T
XM_006714068.2:c.626+7073G>T XP_006714131.1:n.626+7073G>T
XM_006714069.2:c.953+7073G>T XP_006714132.1:n.953+7073G>T
XM_006714070.2:c.551+7073G>T XP_006714133.1:n.551+7073G>T
XM_011531543.1:c.536+7073G>T XP_011529845.1:n.536+7073G>T
XM_005262693.5:c.938+7073G>T XP_005262750.1:n.938+7073G>T
XM_005262695.5:c.920+7073G>T XP_005262752.1:n.920+7073G>T
XM_005262696.4:c.593+7073G>T XP_005262753.1:n.593+7073G>T
XM_005262698.4:c.611+7073G>T XP_005262755.1:n.611+7073G>T
XM_006714066.4:c.953+7073G>T XP_006714129.1:n.953+7073G>T
XM_006714068.3:c.626+7073G>T XP_006714131.1:n.626+7073G>T
XM_006714069.4:c.953+7073G>T XP_006714132.1:n.953+7073G>T
XM_006714070.3:c.551+7073G>T XP_006714133.1:n.551+7073G>T
XM_011531543.3:c.536+7073G>T XP_011529845.1:n.536+7073G>T
XM_017007657.2:c.938+7073G>T XP_016863146.1:n.938+7073G>T
XM_017007658.1:c.626+7073G>T XP_016863147.1:n.626+7073G>T
NM_001011513.4:c.593+7073G>T NP_001011513.4:n.593+7073G>T
NM_001256427.2:c.611+7073G>T NP_001243356.2:n.611+7073G>T
NM_001256428.2:c.554+7073G>T NP_001243357.2:n.554+7073G>T
NM_006457.5:c.920+7073G>T MANE Select NP_006448.5:n.920+7073G>T
NM_001256425.2:c.-56+7073G>T NP_001243354.2:n.-56+7073G>T
NM_001256426.2:c.611+7073G>T NP_001243355.2:n.611+7073G>T