Canonical Allele Identifier: CA3159805
Community Standard Title: NM_014476.6(PDLIM3):c.365G>A (p.Arg122Gln)
Gene: PDLIM3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185514303C>T , CM000666.2:g.185514303C>T GRCh38
NC_000004.11:g.186435457C>T , CM000666.1:g.186435457C>T GRCh37
NC_000004.10:g.186672451C>T NCBI36
NG_032576.2:g.26256G>A
NG_032576.3:g.26256G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014476.6:c.365G>A MANE Select NP_055291.2:p.Arg122Gln
ENST00000284767.12:c.365G>A MANE Select ENSP00000284767.8:p.Arg122Gln
NM_001114107.4:c.518+400G>A NP_001107579.1:n.518+400G>A
NM_001114107.5:c.518+400G>A NP_001107579.1:n.518+400G>A
NM_001257962.1:c.365G>A NP_001244891.1:p.Arg122Gln
NM_001257962.2:c.365G>A NP_001244891.1:p.Arg122Gln
NM_001257963.1:c.128G>A NP_001244892.1:p.Arg43Gln
NM_001257963.2:c.128G>A NP_001244892.1:p.Arg43Gln
NM_014476.5:c.365G>A NP_055291.2:p.Arg122Gln
NR_047562.1:n.455-7651G>A
NR_047562.2:n.404-7651G>A
ENST00000284767.9:c.365G>A ENSP00000284767.6:p.Arg122Gln
ENST00000284770.10:c.128G>A ENSP00000284770.5:p.Arg43Gln
ENST00000284770.9:c.365G>A ENSP00000284770.4:p.Arg122Gln
ENST00000284771.6:c.518+400G>A ENSP00000284771.6:n.518+400G>A
ENST00000284771.7:c.518+400G>A ENSP00000284771.6:n.518+400G>A
ENST00000504011.5:n.610G>A
ENST00000504355.5:n.353G>A
ENST00000505886.5:c.*237+400G>A ENSP00000425138.1:n.*237+400G>A
ENST00000512293.1:c.*84G>A ENSP00000421972.1:n.*84G>A
ENST00000514142.5:n.3415G>A
ENST00000620787.4:c.128G>A ENSP00000481771.1:p.Arg43Gln
ENST00000620787.5:c.365G>A ENSP00000481771.2:p.Arg122Gln
ENST00000629667.2:c.*84G>A ENSP00000486107.1:n.*84G>A
ENST00000643009.1:c.353G>A ENSP00000495411.1:p.Arg118Gln
XM_011531874.1:c.553G>A XP_011530176.1:p.Gly185Ser
XR_001741206.2:n.626G>A
XR_938723.1:n.726G>A
XR_938723.3:n.626G>A
XR_938724.1:n.726G>A
XR_938724.3:n.626G>A