Canonical Allele Identifier: CA3014722
Gene: PDLIM5 HGNC NCBI

Linked Data

dbSNP Id: rs13107595
gnomAD v2: 4-95578588-G-A
gnomAD v3: 4-94657437-G-A
gnomAD v4: 4-94657437-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.94657437G>A , CM000666.2:g.94657437G>A GRCh38
NC_000004.11:g.95578588G>A , CM000666.1:g.95578588G>A GRCh37
NC_000004.10:g.95797611G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000317968.9:c.1475G>A MANE Select ENSP00000321746.4:p.Ser492Asn
ENST00000317968.8:c.1475G>A ENSP00000321746.4:p.Ser492Asn
ENST00000380176.7:n.1368G>A
ENST00000437932.5:c.500G>A ENSP00000398469.2:p.Ser167Asn
ENST00000503974.5:c.1166G>A ENSP00000424297.1:p.Ser389Asn
ENST00000506632.2:c.797G>A
ENST00000514743.5:c.1562G>A ENSP00000424360.1:p.Ser521Asn
ENST00000542407.5:c.1148G>A ENSP00000442187.2:p.Ser383Asn
ENST00000615540.4:c.1562G>A ENSP00000480359.1:p.Ser521Asn
ENST00000627587.2:c.*1203G>A ENSP00000486938.1:n.*1203G>A
NM_001011513.3:c.1148G>A NP_001011513.3:p.Ser383Asn
NM_001256425.1:c.500G>A NP_001243354.1:p.Ser167Asn
NM_001256426.1:c.1562G>A NP_001243355.1:p.Ser521Asn
NM_001256427.1:c.1166G>A NP_001243356.1:p.Ser389Asn
NM_001256428.1:c.1109G>A NP_001243357.1:p.Ser370Asn
NM_006457.4:c.1475G>A NP_006448.4:p.Ser492Asn
XM_005262693.3:c.1889G>A XP_005262750.1:p.Ser630Asn
XM_005262695.3:c.1871G>A XP_005262752.1:p.Ser624Asn
XM_005262696.3:c.1544G>A XP_005262753.1:p.Ser515Asn
XM_005262698.3:c.1166G>A XP_005262755.1:p.Ser389Asn
XM_006714066.2:c.1904G>A XP_006714129.1:p.Ser635Asn
XM_006714067.2:c.1904G>A XP_006714130.1:p.Ser635Asn
XM_006714068.2:c.1577G>A XP_006714131.1:p.Ser526Asn
XM_006714069.2:c.1508G>A XP_006714132.1:p.Ser503Asn
XM_006714070.2:c.1502G>A XP_006714133.1:p.Ser501Asn
XM_011531543.1:c.1487G>A XP_011529845.1:p.Ser496Asn
XM_005262693.5:c.1889G>A XP_005262750.1:p.Ser630Asn
XM_005262695.5:c.1871G>A XP_005262752.1:p.Ser624Asn
XM_005262696.4:c.1544G>A XP_005262753.1:p.Ser515Asn
XM_005262698.4:c.1166G>A XP_005262755.1:p.Ser389Asn
XM_006714066.4:c.1904G>A XP_006714129.1:p.Ser635Asn
XM_006714068.3:c.1577G>A XP_006714131.1:p.Ser526Asn
XM_006714069.4:c.1508G>A XP_006714132.1:p.Ser503Asn
XM_006714070.3:c.1502G>A XP_006714133.1:p.Ser501Asn
XM_011531543.3:c.1487G>A XP_011529845.1:p.Ser496Asn
XM_017007657.2:c.1493G>A XP_016863146.1:p.Ser498Asn
XM_017007658.1:c.1181G>A XP_016863147.1:p.Ser394Asn
NM_001011513.4:c.1148G>A NP_001011513.4:p.Ser383Asn
NM_001256427.2:c.1166G>A NP_001243356.2:p.Ser389Asn
NM_001256428.2:c.1109G>A NP_001243357.2:p.Ser370Asn
NM_006457.5:c.1475G>A MANE Select NP_006448.5:p.Ser492Asn
NM_001256425.2:c.500G>A NP_001243354.2:p.Ser167Asn
NM_001256426.2:c.1562G>A NP_001243355.2:p.Ser521Asn