Canonical Allele Identifier: CA359930816

Gene: PDE4D

Linked Data

• gnomAD v4: 5-59215823-G-A
• MyVariant Identifiers: chr5:g.58511649G>A (hg19) ; chr5:g.59215823G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.59215823G>A , CM000667.2:g.59215823G>A	GRCh38
NC_000005.9:g.58511649G>A , CM000667.1:g.58511649G>A	GRCh37
NC_000005.8:g.58547406G>A	NCBI36
NG_027957.1:g.1277277C>T
NG_027957.2:g.1313507C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507116.6:c.409C>T	ENSP00000424852.1:p.Leu137Phe
ENST00000340635.11:c.601C>T MANE Select	ENSP00000345502.6:p.Leu201Phe
ENST00000636120.1:c.271C>T	ENSP00000490821.1:p.Leu91Phe
ENST00000638939.1:c.166C>T	ENSP00000492052.1:p.Leu56Phe
ENST00000309641.10:c.409C>T	ENSP00000308485.6:p.Leu137Phe
ENST00000340635.10:c.601C>T	ENSP00000345502.6:p.Leu201Phe
ENST00000360047.9:c.193C>T	ENSP00000353152.5:p.Leu65Phe
ENST00000405053.7:n.264C>T
ENST00000405755.6:c.235C>T	ENSP00000384806.2:p.Leu79Phe
ENST00000502484.6:c.418C>T	ENSP00000423094.2:p.Leu140Phe
ENST00000502575.1:c.409C>T	ENSP00000425917.1:p.Leu137Phe
ENST00000503258.5:c.211C>T	ENSP00000425605.1:p.Leu71Phe
ENST00000505453.1:c.-98-176852C>T	ENSP00000421013.1:n.-98-176852C>T
ENST00000507116.5:c.409C>T	ENSP00000424852.1:p.Leu137Phe
ENST00000514231.1:n.364C>T
ENST00000515324.1:n.113C>T
ENST00000546160.5:c.208C>T	ENSP00000442734.2:p.Leu70Phe
ENST00000621323.4:n.146C>T
NM_001104631.1:c.601C>T	NP_001098101.1:p.Leu201Phe
NM_001165899.1:c.418C>T	NP_001159371.1:p.Leu140Phe
NM_001197218.1:c.409C>T	NP_001184147.1:p.Leu137Phe
NM_001197219.1:c.235C>T	NP_001184148.1:p.Leu79Phe
NM_001197220.1:c.211C>T	NP_001184149.1:p.Leu71Phe
NM_006203.4:c.193C>T	NP_006194.2:p.Leu65Phe
XM_005248537.2:c.271C>T	XP_005248594.1:p.Leu91Phe
XM_005248538.3:c.193C>T	XP_005248595.1:p.Leu65Phe
XM_011543469.1:c.565C>T	XP_011541771.1:p.Leu189Phe
XM_011543470.1:c.565C>T	XP_011541772.1:p.Leu189Phe
XM_011543471.1:c.418C>T	XP_011541773.1:p.Leu140Phe
XM_011543472.1:c.418C>T	XP_011541774.1:p.Leu140Phe
XM_011543473.1:c.418C>T	XP_011541775.1:p.Leu140Phe
XM_011543474.1:c.388C>T	XP_011541776.1:p.Leu130Phe
XM_011543475.1:c.235C>T	XP_011541777.1:p.Leu79Phe
XM_011543476.1:c.181C>T	XP_011541778.1:p.Leu61Phe
XM_011543477.1:c.160C>T	XP_011541779.1:p.Leu54Phe
XM_011543478.1:c.97C>T	XP_011541780.1:p.Leu33Phe
XM_011543479.1:c.97C>T	XP_011541781.1:p.Leu33Phe
NM_001349241.1:c.388C>T	NP_001336170.1:p.Leu130Phe
NM_001349242.1:c.271C>T	NP_001336171.1:p.Leu91Phe
NM_001349243.1:c.-94C>T	NP_001336172.1:n.-94C>T
NM_001364599.1:c.418C>T	NP_001351528.1:p.Leu140Phe
NM_001364600.1:c.418C>T	NP_001351529.1:p.Leu140Phe
NM_001364601.1:c.409C>T	NP_001351530.1:p.Leu137Phe
NM_001364602.1:c.409C>T	NP_001351531.1:p.Leu137Phe
NM_001364603.1:c.-350C>T	NP_001351532.1:n.-350C>T
NM_001364604.1:c.-94C>T	NP_001351533.1:n.-94C>T
XM_011543470.2:c.565C>T	XP_011541772.1:p.Leu189Phe
XM_011543471.2:c.418C>T	XP_011541773.1:p.Leu140Phe
XM_017009565.1:c.565C>T	XP_016865054.1:p.Leu189Phe
XM_017009566.1:c.418C>T	XP_016865055.1:p.Leu140Phe
XM_017009567.1:c.403C>T	XP_016865056.1:p.Leu135Phe
XM_024446110.1:c.565C>T	XP_024301878.1:p.Leu189Phe
XM_024446112.1:c.418C>T	XP_024301880.1:p.Leu140Phe
NM_001104631.2:c.601C>T MANE Select	NP_001098101.1:p.Leu201Phe
NM_001165899.2:c.418C>T	NP_001159371.1:p.Leu140Phe
NM_001197218.2:c.409C>T	NP_001184147.1:p.Leu137Phe
NM_001197219.2:c.235C>T	NP_001184148.1:p.Leu79Phe
NM_001197220.2:c.211C>T	NP_001184149.1:p.Leu71Phe
NM_001349241.2:c.388C>T	NP_001336170.1:p.Leu130Phe
NM_001349243.2:c.-94C>T	NP_001336172.1:n.-94C>T
NM_001364600.2:c.418C>T	NP_001351529.1:p.Leu140Phe
NM_001364602.2:c.409C>T	NP_001351531.1:p.Leu137Phe
NM_001349242.2:c.271C>T	NP_001336171.1:p.Leu91Phe
NM_006203.5:c.193C>T	NP_006194.2:p.Leu65Phe