Canonical Allele Identifier: CA128854

Gene: PDE4D

Linked Data

• ClinVar Variation Id: 30039
• ClinVar RCV Id: RCV000022939 ; RCV003556069
• dbSNP Id: rs397514468
• MyVariant Identifiers: chr5:g.58489328G>C (hg19) ; chr5:g.59193502G>C (hg38)
• PubMed: PMID:22464252

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.59193502G>C , CM000667.2:g.59193502G>C	GRCh38
NC_000005.9:g.58489328G>C , CM000667.1:g.58489328G>C	GRCh37
NC_000005.8:g.58525085G>C	NCBI36
NG_027957.1:g.1299598C>G
NG_027957.2:g.1335828C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507116.6:c.490C>G	ENSP00000424852.1:p.Gln164Glu
ENST00000340635.11:c.682C>G MANE Select	ENSP00000345502.6:p.Gln228Glu
ENST00000636120.1:c.352C>G	ENSP00000490821.1:p.Gln118Glu
ENST00000638939.1:c.247C>G	ENSP00000492052.1:p.Gln83Glu
ENST00000309641.10:c.490C>G	ENSP00000308485.6:p.Gln164Glu
ENST00000340635.10:c.682C>G	ENSP00000345502.6:p.Gln228Glu
ENST00000360047.9:c.274C>G	ENSP00000353152.5:p.Gln92Glu
ENST00000405053.7:n.345C>G
ENST00000405755.6:c.316C>G	ENSP00000384806.2:p.Gln106Glu
ENST00000502484.6:c.499C>G	ENSP00000423094.2:p.Gln167Glu
ENST00000502575.1:c.490C>G	ENSP00000425917.1:p.Gln164Glu
ENST00000503258.5:c.292C>G	ENSP00000425605.1:p.Gln98Glu
ENST00000505453.1:c.-98-154531C>G	ENSP00000421013.1:n.-98-154531C>G
ENST00000507116.5:c.490C>G	ENSP00000424852.1:p.Gln164Glu
ENST00000515324.1:n.194C>G
ENST00000546160.5:c.289C>G	ENSP00000442734.2:p.Gln97Glu
ENST00000621323.4:n.227C>G
NM_001104631.1:c.682C>G	NP_001098101.1:p.Gln228Glu
NM_001165899.1:c.499C>G	NP_001159371.1:p.Gln167Glu
NM_001197218.1:c.490C>G	NP_001184147.1:p.Gln164Glu
NM_001197219.1:c.316C>G	NP_001184148.1:p.Gln106Glu
NM_001197220.1:c.292C>G	NP_001184149.1:p.Gln98Glu
NM_006203.4:c.274C>G	NP_006194.2:p.Gln92Glu
XM_005248537.2:c.352C>G	XP_005248594.1:p.Gln118Glu
XM_005248538.3:c.274C>G	XP_005248595.1:p.Gln92Glu
XM_011543469.1:c.646C>G	XP_011541771.1:p.Gln216Glu
XM_011543470.1:c.646C>G	XP_011541772.1:p.Gln216Glu
XM_011543471.1:c.499C>G	XP_011541773.1:p.Gln167Glu
XM_011543472.1:c.499C>G	XP_011541774.1:p.Gln167Glu
XM_011543473.1:c.499C>G	XP_011541775.1:p.Gln167Glu
XM_011543474.1:c.469C>G	XP_011541776.1:p.Gln157Glu
XM_011543475.1:c.316C>G	XP_011541777.1:p.Gln106Glu
XM_011543476.1:c.262C>G	XP_011541778.1:p.Gln88Glu
XM_011543477.1:c.241C>G	XP_011541779.1:p.Gln81Glu
XM_011543478.1:c.178C>G	XP_011541780.1:p.Gln60Glu
XM_011543479.1:c.178C>G	XP_011541781.1:p.Gln60Glu
NM_001349241.1:c.469C>G	NP_001336170.1:p.Gln157Glu
NM_001349242.1:c.352C>G	NP_001336171.1:p.Gln118Glu
NM_001349243.1:c.-13C>G	NP_001336172.1:n.-13C>G
NM_001364599.1:c.499C>G	NP_001351528.1:p.Gln167Glu
NM_001364600.1:c.499C>G	NP_001351529.1:p.Gln167Glu
NM_001364602.1:c.490C>G	NP_001351531.1:p.Gln164Glu
NM_001364603.1:c.-269C>G	NP_001351532.1:n.-269C>G
NM_001364604.1:c.-13C>G	NP_001351533.1:n.-13C>G
XM_011543470.2:c.646C>G	XP_011541772.1:p.Gln216Glu
XM_011543471.2:c.499C>G	XP_011541773.1:p.Gln167Glu
XM_017009565.1:c.646C>G	XP_016865054.1:p.Gln216Glu
XM_017009566.1:c.499C>G	XP_016865055.1:p.Gln167Glu
XM_017009567.1:c.484C>G	XP_016865056.1:p.Gln162Glu
XM_024446110.1:c.646C>G	XP_024301878.1:p.Gln216Glu
XM_024446112.1:c.499C>G	XP_024301880.1:p.Gln167Glu
NM_001104631.2:c.682C>G MANE Select	NP_001098101.1:p.Gln228Glu
NM_001165899.2:c.499C>G	NP_001159371.1:p.Gln167Glu
NM_001197218.2:c.490C>G	NP_001184147.1:p.Gln164Glu
NM_001197219.2:c.316C>G	NP_001184148.1:p.Gln106Glu
NM_001197220.2:c.292C>G	NP_001184149.1:p.Gln98Glu
NM_001349241.2:c.469C>G	NP_001336170.1:p.Gln157Glu
NM_001349243.2:c.-13C>G	NP_001336172.1:n.-13C>G
NM_001364600.2:c.499C>G	NP_001351529.1:p.Gln167Glu
NM_001364602.2:c.490C>G	NP_001351531.1:p.Gln164Glu
NM_001349242.2:c.352C>G	NP_001336171.1:p.Gln118Glu
NM_006203.5:c.274C>G	NP_006194.2:p.Gln92Glu