Canonical Allele Identifier: CA16604814
Gene: PDE4D HGNC NCBI

Linked Data

ClinVar Variation Id: 379784
ClinVar RCV Id: RCV000425291
dbSNP Id: rs1057520731

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.59038899A>C , CM000667.2:g.59038899A>C GRCh38
NC_000005.9:g.58334726A>C , CM000667.1:g.58334726A>C GRCh37
NC_000005.8:g.58370483A>C NCBI36
NG_027957.1:g.1454200T>G
NG_027957.2:g.1490431T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000507116.6:c.689T>G ENSP00000424852.1:p.Leu230Arg
ENST00000340635.11:c.881T>G MANE Select ENSP00000345502.6:p.Leu294Arg
ENST00000636120.1:c.551T>G ENSP00000490821.1:p.Leu184Arg
ENST00000309641.10:c.733T>G ENSP00000308485.6:n.733T>G
ENST00000340635.10:c.881T>G ENSP00000345502.6:p.Leu294Arg
ENST00000358923.10:c.-26T>G ENSP00000351800.6:n.-26T>G
ENST00000360047.9:c.473T>G ENSP00000353152.5:p.Leu158Arg
ENST00000405053.7:n.472-45434T>G
ENST00000405755.6:c.515T>G ENSP00000384806.2:p.Leu172Arg
ENST00000502484.6:c.698T>G ENSP00000423094.2:p.Leu233Arg
ENST00000503258.5:c.491T>G ENSP00000425605.1:p.Leu164Arg
ENST00000505453.1:c.-26T>G ENSP00000421013.1:n.-26T>G
ENST00000507116.5:c.689T>G ENSP00000424852.1:p.Leu230Arg
ENST00000515011.5:n.617T>G
ENST00000546160.5:c.488T>G ENSP00000442734.2:p.Leu163Arg
NM_001104631.1:c.881T>G NP_001098101.1:p.Leu294Arg
NM_001165899.1:c.698T>G NP_001159371.1:p.Leu233Arg
NM_001197218.1:c.689T>G NP_001184147.1:p.Leu230Arg
NM_001197219.1:c.515T>G NP_001184148.1:p.Leu172Arg
NM_001197220.1:c.491T>G NP_001184149.1:p.Leu164Arg
NM_001197221.1:c.-26T>G NP_001184150.1:n.-26T>G
NM_001197222.1:c.209T>G NP_001184151.1:p.Leu70Arg
NM_006203.4:c.473T>G NP_006194.2:p.Leu158Arg
XM_005248537.2:c.551T>G XP_005248594.1:p.Leu184Arg
XM_005248538.3:c.473T>G XP_005248595.1:p.Leu158Arg
XM_011543469.1:c.845T>G XP_011541771.1:p.Leu282Arg
XM_011543470.1:c.845T>G XP_011541772.1:p.Leu282Arg
XM_011543471.1:c.698T>G XP_011541773.1:p.Leu233Arg
XM_011543472.1:c.698T>G XP_011541774.1:p.Leu233Arg
XM_011543473.1:c.698T>G XP_011541775.1:p.Leu233Arg
XM_011543474.1:c.668T>G XP_011541776.1:p.Leu223Arg
XM_011543475.1:c.515T>G XP_011541777.1:p.Leu172Arg
XM_011543476.1:c.461T>G XP_011541778.1:p.Leu154Arg
XM_011543477.1:c.440T>G XP_011541779.1:p.Leu147Arg
XM_011543478.1:c.377T>G XP_011541780.1:p.Leu126Arg
XM_011543479.1:c.377T>G XP_011541781.1:p.Leu126Arg
XR_948360.1:n.838+3781A>C
NM_001349241.1:c.668T>G NP_001336170.1:p.Leu223Arg
NM_001349242.1:c.551T>G NP_001336171.1:p.Leu184Arg
NM_001349243.1:c.113T>G NP_001336172.1:p.Leu38Arg
NM_001364599.1:c.698T>G NP_001351528.1:p.Leu233Arg
NM_001364603.1:c.-26T>G NP_001351532.1:n.-26T>G
NM_001364604.1:c.113T>G NP_001351533.1:p.Leu38Arg
XM_011543470.2:c.845T>G XP_011541772.1:p.Leu282Arg
XM_011543471.2:c.698T>G XP_011541773.1:p.Leu233Arg
XM_017009565.1:c.845T>G XP_016865054.1:p.Leu282Arg
XM_017009566.1:c.698T>G XP_016865055.1:p.Leu233Arg
XM_017009567.1:c.683T>G XP_016865056.1:p.Leu228Arg
XM_024446110.1:c.845T>G XP_024301878.1:p.Leu282Arg
XM_024446112.1:c.698T>G XP_024301880.1:p.Leu233Arg
NM_001104631.2:c.881T>G MANE Select NP_001098101.1:p.Leu294Arg
NM_001165899.2:c.698T>G NP_001159371.1:p.Leu233Arg
NM_001197218.2:c.689T>G NP_001184147.1:p.Leu230Arg
NM_001197219.2:c.515T>G NP_001184148.1:p.Leu172Arg
NM_001197220.2:c.491T>G NP_001184149.1:p.Leu164Arg
NM_001197221.2:c.-26T>G NP_001184150.1:n.-26T>G
NM_001197222.2:c.209T>G NP_001184151.1:p.Leu70Arg
NM_001349241.2:c.668T>G NP_001336170.1:p.Leu223Arg
NM_001349243.2:c.113T>G NP_001336172.1:p.Leu38Arg
NM_001349242.2:c.551T>G NP_001336171.1:p.Leu184Arg
NM_006203.5:c.473T>G NP_006194.2:p.Leu158Arg