Canonical Allele Identifier: CA3276400

Gene: PDE4D

Linked Data

• ClinVar Variation Id: 2179738
• ClinVar RCV Id: RCV002615200
• dbSNP Id: rs769225094
• ExAC: 5:58511635 A / G
• gnomAD v2: 5-58511635-A-G
• gnomAD v3: 5-59215809-A-G
• gnomAD v4: 5-59215809-A-G
• MyVariant Identifiers: chr5:g.58511635A>G (hg19) ; chr5:g.59215809A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.59215809A>G , CM000667.2:g.59215809A>G	GRCh38
NC_000005.9:g.58511635A>G , CM000667.1:g.58511635A>G	GRCh37
NC_000005.8:g.58547392A>G	NCBI36
NG_027957.1:g.1277291T>C
NG_027957.2:g.1313521T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507116.6:c.423T>C	ENSP00000424852.1:p.Ser141=
ENST00000340635.11:c.615T>C MANE Select	ENSP00000345502.6:p.Ser205=
ENST00000636120.1:c.285T>C	ENSP00000490821.1:p.Ser95=
ENST00000638939.1:c.180T>C	ENSP00000492052.1:p.Ser60=
ENST00000309641.10:c.423T>C	ENSP00000308485.6:p.Ser141=
ENST00000340635.10:c.615T>C	ENSP00000345502.6:p.Ser205=
ENST00000360047.9:c.207T>C	ENSP00000353152.5:p.Ser69=
ENST00000405053.7:n.278T>C
ENST00000405755.6:c.249T>C	ENSP00000384806.2:p.Ser83=
ENST00000502484.6:c.432T>C	ENSP00000423094.2:p.Ser144=
ENST00000502575.1:c.423T>C	ENSP00000425917.1:p.Ser141=
ENST00000503258.5:c.225T>C	ENSP00000425605.1:p.Ser75=
ENST00000505453.1:c.-98-176838T>C	ENSP00000421013.1:n.-98-176838T>C
ENST00000507116.5:c.423T>C	ENSP00000424852.1:p.Ser141=
ENST00000514231.1:n.378T>C
ENST00000515324.1:n.127T>C
ENST00000546160.5:c.222T>C	ENSP00000442734.2:p.Ser74=
ENST00000621323.4:n.160T>C
NM_001104631.1:c.615T>C	NP_001098101.1:p.Ser205=
NM_001165899.1:c.432T>C	NP_001159371.1:p.Ser144=
NM_001197218.1:c.423T>C	NP_001184147.1:p.Ser141=
NM_001197219.1:c.249T>C	NP_001184148.1:p.Ser83=
NM_001197220.1:c.225T>C	NP_001184149.1:p.Ser75=
NM_006203.4:c.207T>C	NP_006194.2:p.Ser69=
XM_005248537.2:c.285T>C	XP_005248594.1:p.Ser95=
XM_005248538.3:c.207T>C	XP_005248595.1:p.Ser69=
XM_011543469.1:c.579T>C	XP_011541771.1:p.Ser193=
XM_011543470.1:c.579T>C	XP_011541772.1:p.Ser193=
XM_011543471.1:c.432T>C	XP_011541773.1:p.Ser144=
XM_011543472.1:c.432T>C	XP_011541774.1:p.Ser144=
XM_011543473.1:c.432T>C	XP_011541775.1:p.Ser144=
XM_011543474.1:c.402T>C	XP_011541776.1:p.Ser134=
XM_011543475.1:c.249T>C	XP_011541777.1:p.Ser83=
XM_011543476.1:c.195T>C	XP_011541778.1:p.Ser65=
XM_011543477.1:c.174T>C	XP_011541779.1:p.Ser58=
XM_011543478.1:c.111T>C	XP_011541780.1:p.Ser37=
XM_011543479.1:c.111T>C	XP_011541781.1:p.Ser37=
NM_001349241.1:c.402T>C	NP_001336170.1:p.Ser134=
NM_001349242.1:c.285T>C	NP_001336171.1:p.Ser95=
NM_001349243.1:c.-80T>C	NP_001336172.1:n.-80T>C
NM_001364599.1:c.432T>C	NP_001351528.1:p.Ser144=
NM_001364600.1:c.432T>C	NP_001351529.1:p.Ser144=
NM_001364601.1:c.423T>C	NP_001351530.1:p.Ser141=
NM_001364602.1:c.423T>C	NP_001351531.1:p.Ser141=
NM_001364603.1:c.-336T>C	NP_001351532.1:n.-336T>C
NM_001364604.1:c.-80T>C	NP_001351533.1:n.-80T>C
XM_011543470.2:c.579T>C	XP_011541772.1:p.Ser193=
XM_011543471.2:c.432T>C	XP_011541773.1:p.Ser144=
XM_017009565.1:c.579T>C	XP_016865054.1:p.Ser193=
XM_017009566.1:c.432T>C	XP_016865055.1:p.Ser144=
XM_017009567.1:c.417T>C	XP_016865056.1:p.Ser139=
XM_024446110.1:c.579T>C	XP_024301878.1:p.Ser193=
XM_024446112.1:c.432T>C	XP_024301880.1:p.Ser144=
NM_001104631.2:c.615T>C MANE Select	NP_001098101.1:p.Ser205=
NM_001165899.2:c.432T>C	NP_001159371.1:p.Ser144=
NM_001197218.2:c.423T>C	NP_001184147.1:p.Ser141=
NM_001197219.2:c.249T>C	NP_001184148.1:p.Ser83=
NM_001197220.2:c.225T>C	NP_001184149.1:p.Ser75=
NM_001349241.2:c.402T>C	NP_001336170.1:p.Ser134=
NM_001349243.2:c.-80T>C	NP_001336172.1:n.-80T>C
NM_001364600.2:c.432T>C	NP_001351529.1:p.Ser144=
NM_001364602.2:c.423T>C	NP_001351531.1:p.Ser141=
NM_001349242.2:c.285T>C	NP_001336171.1:p.Ser95=
NM_006203.5:c.207T>C	NP_006194.2:p.Ser69=