Canonical Allele Identifier: CA359930507

Gene: PDE4D

Linked Data

• ClinVar Variation Id: 3236684
• ClinVar RCV Id: RCV004556144
• MyVariant Identifiers: chr5:g.58489345A>G (hg19) ; chr5:g.59193519A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.59193519A>G , CM000667.2:g.59193519A>G	GRCh38
NC_000005.9:g.58489345A>G , CM000667.1:g.58489345A>G	GRCh37
NC_000005.8:g.58525102A>G	NCBI36
NG_027957.1:g.1299581T>C
NG_027957.2:g.1335811T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507116.6:c.473T>C	ENSP00000424852.1:p.Ile158Thr
ENST00000340635.11:c.665T>C MANE Select	ENSP00000345502.6:p.Ile222Thr
ENST00000636120.1:c.335T>C	ENSP00000490821.1:p.Ile112Thr
ENST00000638939.1:c.230T>C	ENSP00000492052.1:p.Ile77Thr
ENST00000309641.10:c.473T>C	ENSP00000308485.6:p.Ile158Thr
ENST00000340635.10:c.665T>C	ENSP00000345502.6:p.Ile222Thr
ENST00000360047.9:c.257T>C	ENSP00000353152.5:p.Ile86Thr
ENST00000405053.7:n.328T>C
ENST00000405755.6:c.299T>C	ENSP00000384806.2:p.Ile100Thr
ENST00000502484.6:c.482T>C	ENSP00000423094.2:p.Ile161Thr
ENST00000502575.1:c.473T>C	ENSP00000425917.1:p.Ile158Thr
ENST00000503258.5:c.275T>C	ENSP00000425605.1:p.Ile92Thr
ENST00000505453.1:c.-98-154548T>C	ENSP00000421013.1:n.-98-154548T>C
ENST00000507116.5:c.473T>C	ENSP00000424852.1:p.Ile158Thr
ENST00000515324.1:n.177T>C
ENST00000546160.5:c.272T>C	ENSP00000442734.2:p.Ile91Thr
ENST00000621323.4:n.210T>C
NM_001104631.1:c.665T>C	NP_001098101.1:p.Ile222Thr
NM_001165899.1:c.482T>C	NP_001159371.1:p.Ile161Thr
NM_001197218.1:c.473T>C	NP_001184147.1:p.Ile158Thr
NM_001197219.1:c.299T>C	NP_001184148.1:p.Ile100Thr
NM_001197220.1:c.275T>C	NP_001184149.1:p.Ile92Thr
NM_006203.4:c.257T>C	NP_006194.2:p.Ile86Thr
XM_005248537.2:c.335T>C	XP_005248594.1:p.Ile112Thr
XM_005248538.3:c.257T>C	XP_005248595.1:p.Ile86Thr
XM_011543469.1:c.629T>C	XP_011541771.1:p.Ile210Thr
XM_011543470.1:c.629T>C	XP_011541772.1:p.Ile210Thr
XM_011543471.1:c.482T>C	XP_011541773.1:p.Ile161Thr
XM_011543472.1:c.482T>C	XP_011541774.1:p.Ile161Thr
XM_011543473.1:c.482T>C	XP_011541775.1:p.Ile161Thr
XM_011543474.1:c.452T>C	XP_011541776.1:p.Ile151Thr
XM_011543475.1:c.299T>C	XP_011541777.1:p.Ile100Thr
XM_011543476.1:c.245T>C	XP_011541778.1:p.Ile82Thr
XM_011543477.1:c.224T>C	XP_011541779.1:p.Ile75Thr
XM_011543478.1:c.161T>C	XP_011541780.1:p.Ile54Thr
XM_011543479.1:c.161T>C	XP_011541781.1:p.Ile54Thr
NM_001349241.1:c.452T>C	NP_001336170.1:p.Ile151Thr
NM_001349242.1:c.335T>C	NP_001336171.1:p.Ile112Thr
NM_001349243.1:c.-30T>C	NP_001336172.1:n.-30T>C
NM_001364599.1:c.482T>C	NP_001351528.1:p.Ile161Thr
NM_001364600.1:c.482T>C	NP_001351529.1:p.Ile161Thr
NM_001364602.1:c.473T>C	NP_001351531.1:p.Ile158Thr
NM_001364603.1:c.-286T>C	NP_001351532.1:n.-286T>C
NM_001364604.1:c.-30T>C	NP_001351533.1:n.-30T>C
XM_011543470.2:c.629T>C	XP_011541772.1:p.Ile210Thr
XM_011543471.2:c.482T>C	XP_011541773.1:p.Ile161Thr
XM_017009565.1:c.629T>C	XP_016865054.1:p.Ile210Thr
XM_017009566.1:c.482T>C	XP_016865055.1:p.Ile161Thr
XM_017009567.1:c.467T>C	XP_016865056.1:p.Ile156Thr
XM_024446110.1:c.629T>C	XP_024301878.1:p.Ile210Thr
XM_024446112.1:c.482T>C	XP_024301880.1:p.Ile161Thr
NM_001104631.2:c.665T>C MANE Select	NP_001098101.1:p.Ile222Thr
NM_001165899.2:c.482T>C	NP_001159371.1:p.Ile161Thr
NM_001197218.2:c.473T>C	NP_001184147.1:p.Ile158Thr
NM_001197219.2:c.299T>C	NP_001184148.1:p.Ile100Thr
NM_001197220.2:c.275T>C	NP_001184149.1:p.Ile92Thr
NM_001349241.2:c.452T>C	NP_001336170.1:p.Ile151Thr
NM_001349243.2:c.-30T>C	NP_001336172.1:n.-30T>C
NM_001364600.2:c.482T>C	NP_001351529.1:p.Ile161Thr
NM_001364602.2:c.473T>C	NP_001351531.1:p.Ile158Thr
NM_001349242.2:c.335T>C	NP_001336171.1:p.Ile112Thr
NM_006203.5:c.257T>C	NP_006194.2:p.Ile86Thr