Canonical Allele Identifier: CA3276260

Gene: PDE4D

Linked Data

• ClinVar Variation Id: 353996
• ClinVar RCV Id: RCV000328420 ; RCV000897746
• dbSNP Id: rs369034280
• ExAC: 5:58334716 C / T
• gnomAD v2: 5-58334716-C-T
• gnomAD v3: 5-59038889-C-T
• gnomAD v4: 5-59038889-C-T
• MyVariant Identifiers: chr5:g.58334716C>T (hg19) ; chr5:g.59038889C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.59038889C>T , CM000667.2:g.59038889C>T	GRCh38
NC_000005.9:g.58334716C>T , CM000667.1:g.58334716C>T	GRCh37
NC_000005.8:g.58370473C>T	NCBI36
NG_027957.1:g.1454210G>A
NG_027957.2:g.1490441G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507116.6:c.699G>A	ENSP00000424852.1:p.Arg233=
ENST00000340635.11:c.891G>A MANE Select	ENSP00000345502.6:p.Arg297=
ENST00000636120.1:c.561G>A	ENSP00000490821.1:p.Arg187=
ENST00000309641.10:c.743G>A	ENSP00000308485.6:n.743G>A
ENST00000340635.10:c.891G>A	ENSP00000345502.6:p.Arg297=
ENST00000358923.10:c.-16G>A	ENSP00000351800.6:n.-16G>A
ENST00000360047.9:c.483G>A	ENSP00000353152.5:p.Arg161=
ENST00000405053.7:n.472-45424G>A
ENST00000405755.6:c.525G>A	ENSP00000384806.2:p.Arg175=
ENST00000502484.6:c.708G>A	ENSP00000423094.2:p.Arg236=
ENST00000503258.5:c.501G>A	ENSP00000425605.1:p.Arg167=
ENST00000505453.1:c.-16G>A	ENSP00000421013.1:n.-16G>A
ENST00000507116.5:c.699G>A	ENSP00000424852.1:p.Arg233=
ENST00000515011.5:n.627G>A
ENST00000546160.5:c.498G>A	ENSP00000442734.2:p.Arg166=
NM_001104631.1:c.891G>A	NP_001098101.1:p.Arg297=
NM_001165899.1:c.708G>A	NP_001159371.1:p.Arg236=
NM_001197218.1:c.699G>A	NP_001184147.1:p.Arg233=
NM_001197219.1:c.525G>A	NP_001184148.1:p.Arg175=
NM_001197220.1:c.501G>A	NP_001184149.1:p.Arg167=
NM_001197221.1:c.-16G>A	NP_001184150.1:n.-16G>A
NM_001197222.1:c.219G>A	NP_001184151.1:p.Arg73=
NM_006203.4:c.483G>A	NP_006194.2:p.Arg161=
XM_005248537.2:c.561G>A	XP_005248594.1:p.Arg187=
XM_005248538.3:c.483G>A	XP_005248595.1:p.Arg161=
XM_011543469.1:c.855G>A	XP_011541771.1:p.Arg285=
XM_011543470.1:c.855G>A	XP_011541772.1:p.Arg285=
XM_011543471.1:c.708G>A	XP_011541773.1:p.Arg236=
XM_011543472.1:c.708G>A	XP_011541774.1:p.Arg236=
XM_011543473.1:c.708G>A	XP_011541775.1:p.Arg236=
XM_011543474.1:c.678G>A	XP_011541776.1:p.Arg226=
XM_011543475.1:c.525G>A	XP_011541777.1:p.Arg175=
XM_011543476.1:c.471G>A	XP_011541778.1:p.Arg157=
XM_011543477.1:c.450G>A	XP_011541779.1:p.Arg150=
XM_011543478.1:c.387G>A	XP_011541780.1:p.Arg129=
XM_011543479.1:c.387G>A	XP_011541781.1:p.Arg129=
XR_948360.1:n.838+3771C>T
NM_001349241.1:c.678G>A	NP_001336170.1:p.Arg226=
NM_001349242.1:c.561G>A	NP_001336171.1:p.Arg187=
NM_001349243.1:c.123G>A	NP_001336172.1:p.Arg41=
NM_001364599.1:c.708G>A	NP_001351528.1:p.Arg236=
NM_001364603.1:c.-16G>A	NP_001351532.1:n.-16G>A
NM_001364604.1:c.123G>A	NP_001351533.1:p.Arg41=
XM_011543470.2:c.855G>A	XP_011541772.1:p.Arg285=
XM_011543471.2:c.708G>A	XP_011541773.1:p.Arg236=
XM_017009565.1:c.855G>A	XP_016865054.1:p.Arg285=
XM_017009566.1:c.708G>A	XP_016865055.1:p.Arg236=
XM_017009567.1:c.693G>A	XP_016865056.1:p.Arg231=
XM_024446110.1:c.855G>A	XP_024301878.1:p.Arg285=
XM_024446112.1:c.708G>A	XP_024301880.1:p.Arg236=
NM_001104631.2:c.891G>A MANE Select	NP_001098101.1:p.Arg297=
NM_001165899.2:c.708G>A	NP_001159371.1:p.Arg236=
NM_001197218.2:c.699G>A	NP_001184147.1:p.Arg233=
NM_001197219.2:c.525G>A	NP_001184148.1:p.Arg175=
NM_001197220.2:c.501G>A	NP_001184149.1:p.Arg167=
NM_001197221.2:c.-16G>A	NP_001184150.1:n.-16G>A
NM_001197222.2:c.219G>A	NP_001184151.1:p.Arg73=
NM_001349241.2:c.678G>A	NP_001336170.1:p.Arg226=
NM_001349243.2:c.123G>A	NP_001336172.1:p.Arg41=
NM_001349242.2:c.561G>A	NP_001336171.1:p.Arg187=
NM_006203.5:c.483G>A	NP_006194.2:p.Arg161=