Canonical Allele Identifier: CA359930862

Gene: PDE4D

Linked Data

• gnomAD v4: 5-59215843-C-A
• MyVariant Identifiers: chr5:g.58511669C>A (hg19) ; chr5:g.59215843C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.59215843C>A , CM000667.2:g.59215843C>A	GRCh38
NC_000005.9:g.58511669C>A , CM000667.1:g.58511669C>A	GRCh37
NC_000005.8:g.58547426C>A	NCBI36
NG_027957.1:g.1277257G>T
NG_027957.2:g.1313487G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507116.6:c.389G>T	ENSP00000424852.1:p.Arg130Leu
ENST00000340635.11:c.581G>T MANE Select	ENSP00000345502.6:p.Arg194Leu
ENST00000636120.1:c.251G>T	ENSP00000490821.1:p.Arg84Leu
ENST00000638939.1:c.146G>T	ENSP00000492052.1:p.Arg49Leu
ENST00000309641.10:c.389G>T	ENSP00000308485.6:p.Arg130Leu
ENST00000340635.10:c.581G>T	ENSP00000345502.6:p.Arg194Leu
ENST00000360047.9:c.173G>T	ENSP00000353152.5:p.Arg58Leu
ENST00000405053.7:n.244G>T
ENST00000405755.6:c.215G>T	ENSP00000384806.2:p.Arg72Leu
ENST00000502484.6:c.398G>T	ENSP00000423094.2:p.Arg133Leu
ENST00000502575.1:c.389G>T	ENSP00000425917.1:p.Arg130Leu
ENST00000503258.5:c.191G>T	ENSP00000425605.1:p.Arg64Leu
ENST00000505453.1:c.-98-176872G>T	ENSP00000421013.1:n.-98-176872G>T
ENST00000507116.5:c.389G>T	ENSP00000424852.1:p.Arg130Leu
ENST00000514231.1:n.344G>T
ENST00000515324.1:n.93G>T
ENST00000546160.5:c.188G>T	ENSP00000442734.2:p.Arg63Leu
ENST00000621323.4:n.126G>T
NM_001104631.1:c.581G>T	NP_001098101.1:p.Arg194Leu
NM_001165899.1:c.398G>T	NP_001159371.1:p.Arg133Leu
NM_001197218.1:c.389G>T	NP_001184147.1:p.Arg130Leu
NM_001197219.1:c.215G>T	NP_001184148.1:p.Arg72Leu
NM_001197220.1:c.191G>T	NP_001184149.1:p.Arg64Leu
NM_006203.4:c.173G>T	NP_006194.2:p.Arg58Leu
XM_005248537.2:c.251G>T	XP_005248594.1:p.Arg84Leu
XM_005248538.3:c.173G>T	XP_005248595.1:p.Arg58Leu
XM_011543469.1:c.545G>T	XP_011541771.1:p.Arg182Leu
XM_011543470.1:c.545G>T	XP_011541772.1:p.Arg182Leu
XM_011543471.1:c.398G>T	XP_011541773.1:p.Arg133Leu
XM_011543472.1:c.398G>T	XP_011541774.1:p.Arg133Leu
XM_011543473.1:c.398G>T	XP_011541775.1:p.Arg133Leu
XM_011543474.1:c.368G>T	XP_011541776.1:p.Arg123Leu
XM_011543475.1:c.215G>T	XP_011541777.1:p.Arg72Leu
XM_011543476.1:c.161G>T	XP_011541778.1:p.Arg54Leu
XM_011543477.1:c.140G>T	XP_011541779.1:p.Arg47Leu
XM_011543478.1:c.77G>T	XP_011541780.1:p.Arg26Leu
XM_011543479.1:c.77G>T	XP_011541781.1:p.Arg26Leu
NM_001349241.1:c.368G>T	NP_001336170.1:p.Arg123Leu
NM_001349242.1:c.251G>T	NP_001336171.1:p.Arg84Leu
NM_001349243.1:c.-114G>T	NP_001336172.1:n.-114G>T
NM_001364599.1:c.398G>T	NP_001351528.1:p.Arg133Leu
NM_001364600.1:c.398G>T	NP_001351529.1:p.Arg133Leu
NM_001364601.1:c.389G>T	NP_001351530.1:p.Arg130Leu
NM_001364602.1:c.389G>T	NP_001351531.1:p.Arg130Leu
NM_001364603.1:c.-370G>T	NP_001351532.1:n.-370G>T
NM_001364604.1:c.-114G>T	NP_001351533.1:n.-114G>T
XM_011543470.2:c.545G>T	XP_011541772.1:p.Arg182Leu
XM_011543471.2:c.398G>T	XP_011541773.1:p.Arg133Leu
XM_017009565.1:c.545G>T	XP_016865054.1:p.Arg182Leu
XM_017009566.1:c.398G>T	XP_016865055.1:p.Arg133Leu
XM_017009567.1:c.383G>T	XP_016865056.1:p.Arg128Leu
XM_024446110.1:c.545G>T	XP_024301878.1:p.Arg182Leu
XM_024446112.1:c.398G>T	XP_024301880.1:p.Arg133Leu
NM_001104631.2:c.581G>T MANE Select	NP_001098101.1:p.Arg194Leu
NM_001165899.2:c.398G>T	NP_001159371.1:p.Arg133Leu
NM_001197218.2:c.389G>T	NP_001184147.1:p.Arg130Leu
NM_001197219.2:c.215G>T	NP_001184148.1:p.Arg72Leu
NM_001197220.2:c.191G>T	NP_001184149.1:p.Arg64Leu
NM_001349241.2:c.368G>T	NP_001336170.1:p.Arg123Leu
NM_001349243.2:c.-114G>T	NP_001336172.1:n.-114G>T
NM_001364600.2:c.398G>T	NP_001351529.1:p.Arg133Leu
NM_001364602.2:c.389G>T	NP_001351531.1:p.Arg130Leu
NM_001349242.2:c.251G>T	NP_001336171.1:p.Arg84Leu
NM_006203.5:c.173G>T	NP_006194.2:p.Arg58Leu