Canonical Allele Identifier: CA359930917

Gene: PDE4D

Linked Data

• dbSNP Id: rs1375168640
• gnomAD v2: 5-58511694-G-T
• gnomAD v4: 5-59215868-G-T
• MyVariant Identifiers: chr5:g.58511694G>T (hg19) ; chr5:g.59215868G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.59215868G>T , CM000667.2:g.59215868G>T	GRCh38
NC_000005.9:g.58511694G>T , CM000667.1:g.58511694G>T	GRCh37
NC_000005.8:g.58547451G>T	NCBI36
NG_027957.1:g.1277232C>A
NG_027957.2:g.1313462C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507116.6:c.364C>A	ENSP00000424852.1:p.Gln122Lys
ENST00000340635.11:c.556C>A MANE Select	ENSP00000345502.6:p.Gln186Lys
ENST00000636120.1:c.226C>A	ENSP00000490821.1:p.Gln76Lys
ENST00000638939.1:c.121C>A	ENSP00000492052.1:p.Gln41Lys
ENST00000309641.10:c.364C>A	ENSP00000308485.6:p.Gln122Lys
ENST00000340635.10:c.556C>A	ENSP00000345502.6:p.Gln186Lys
ENST00000360047.9:c.148C>A	ENSP00000353152.5:p.Gln50Lys
ENST00000405053.7:n.219C>A
ENST00000405755.6:c.190C>A	ENSP00000384806.2:p.Gln64Lys
ENST00000502484.6:c.373C>A	ENSP00000423094.2:p.Gln125Lys
ENST00000502575.1:c.364C>A	ENSP00000425917.1:p.Gln122Lys
ENST00000503258.5:c.166C>A	ENSP00000425605.1:p.Gln56Lys
ENST00000505453.1:c.-98-176897C>A	ENSP00000421013.1:n.-98-176897C>A
ENST00000507116.5:c.364C>A	ENSP00000424852.1:p.Gln122Lys
ENST00000514231.1:n.319C>A
ENST00000515324.1:n.68C>A
ENST00000546160.5:c.163C>A	ENSP00000442734.2:p.Gln55Lys
ENST00000621323.4:n.101C>A
NM_001104631.1:c.556C>A	NP_001098101.1:p.Gln186Lys
NM_001165899.1:c.373C>A	NP_001159371.1:p.Gln125Lys
NM_001197218.1:c.364C>A	NP_001184147.1:p.Gln122Lys
NM_001197219.1:c.190C>A	NP_001184148.1:p.Gln64Lys
NM_001197220.1:c.166C>A	NP_001184149.1:p.Gln56Lys
NM_006203.4:c.148C>A	NP_006194.2:p.Gln50Lys
XM_005248537.2:c.226C>A	XP_005248594.1:p.Gln76Lys
XM_005248538.3:c.148C>A	XP_005248595.1:p.Gln50Lys
XM_011543469.1:c.520C>A	XP_011541771.1:p.Gln174Lys
XM_011543470.1:c.520C>A	XP_011541772.1:p.Gln174Lys
XM_011543471.1:c.373C>A	XP_011541773.1:p.Gln125Lys
XM_011543472.1:c.373C>A	XP_011541774.1:p.Gln125Lys
XM_011543473.1:c.373C>A	XP_011541775.1:p.Gln125Lys
XM_011543474.1:c.343C>A	XP_011541776.1:p.Gln115Lys
XM_011543475.1:c.190C>A	XP_011541777.1:p.Gln64Lys
XM_011543476.1:c.136C>A	XP_011541778.1:p.Gln46Lys
XM_011543477.1:c.115C>A	XP_011541779.1:p.Gln39Lys
XM_011543478.1:c.52C>A	XP_011541780.1:p.Gln18Lys
XM_011543479.1:c.52C>A	XP_011541781.1:p.Gln18Lys
NM_001349241.1:c.343C>A	NP_001336170.1:p.Gln115Lys
NM_001349242.1:c.226C>A	NP_001336171.1:p.Gln76Lys
NM_001349243.1:c.-139C>A	NP_001336172.1:n.-139C>A
NM_001364599.1:c.373C>A	NP_001351528.1:p.Gln125Lys
NM_001364600.1:c.373C>A	NP_001351529.1:p.Gln125Lys
NM_001364601.1:c.364C>A	NP_001351530.1:p.Gln122Lys
NM_001364602.1:c.364C>A	NP_001351531.1:p.Gln122Lys
NM_001364603.1:c.-395C>A	NP_001351532.1:n.-395C>A
NM_001364604.1:c.-139C>A	NP_001351533.1:n.-139C>A
XM_011543470.2:c.520C>A	XP_011541772.1:p.Gln174Lys
XM_011543471.2:c.373C>A	XP_011541773.1:p.Gln125Lys
XM_017009565.1:c.520C>A	XP_016865054.1:p.Gln174Lys
XM_017009566.1:c.373C>A	XP_016865055.1:p.Gln125Lys
XM_017009567.1:c.358C>A	XP_016865056.1:p.Gln120Lys
XM_024446110.1:c.520C>A	XP_024301878.1:p.Gln174Lys
XM_024446112.1:c.373C>A	XP_024301880.1:p.Gln125Lys
NM_001104631.2:c.556C>A MANE Select	NP_001098101.1:p.Gln186Lys
NM_001165899.2:c.373C>A	NP_001159371.1:p.Gln125Lys
NM_001197218.2:c.364C>A	NP_001184147.1:p.Gln122Lys
NM_001197219.2:c.190C>A	NP_001184148.1:p.Gln64Lys
NM_001197220.2:c.166C>A	NP_001184149.1:p.Gln56Lys
NM_001349241.2:c.343C>A	NP_001336170.1:p.Gln115Lys
NM_001349243.2:c.-139C>A	NP_001336172.1:n.-139C>A
NM_001364600.2:c.373C>A	NP_001351529.1:p.Gln125Lys
NM_001364602.2:c.364C>A	NP_001351531.1:p.Gln122Lys
NM_001349242.2:c.226C>A	NP_001336171.1:p.Gln76Lys
NM_006203.5:c.148C>A	NP_006194.2:p.Gln50Lys