Canonical Allele Identifier: CA359813557
Community Standard Title: NM_001104631.2(PDE4D):c.2051A>G (p.Glu684Gly)
Gene: PDE4D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.58975043T>C , CM000667.2:g.58975043T>C GRCh38
NC_000005.9:g.58270870T>C , CM000667.1:g.58270870T>C GRCh37
NC_000005.8:g.58306627T>C NCBI36
NG_027957.1:g.1518056A>G
NG_027957.2:g.1554287A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001104631.2:c.2051A>G MANE Select NP_001098101.1:p.Glu684Gly
ENST00000340635.11:c.2051A>G MANE Select ENSP00000345502.6:p.Glu684Gly
NM_001104631.1:c.2051A>G NP_001098101.1:p.Glu684Gly
NM_001165899.1:c.1868A>G NP_001159371.1:p.Glu623Gly
NM_001165899.2:c.1868A>G NP_001159371.1:p.Glu623Gly
NM_001197218.1:c.1859A>G NP_001184147.1:p.Glu620Gly
NM_001197218.2:c.1859A>G NP_001184147.1:p.Glu620Gly
NM_001197219.1:c.1685A>G NP_001184148.1:p.Glu562Gly
NM_001197219.2:c.1685A>G NP_001184148.1:p.Glu562Gly
NM_001197220.1:c.1661A>G NP_001184149.1:p.Glu554Gly
NM_001197220.2:c.1661A>G NP_001184149.1:p.Glu554Gly
NM_001197221.1:c.1145A>G NP_001184150.1:p.Glu382Gly
NM_001197221.2:c.1145A>G NP_001184150.1:p.Glu382Gly
NM_001197222.1:c.1379A>G NP_001184151.1:p.Glu460Gly
NM_001197222.2:c.1379A>G NP_001184151.1:p.Glu460Gly
NM_001197223.1:c.1178A>G NP_001184152.1:p.Glu393Gly
NM_001197223.2:c.1178A>G NP_001184152.1:p.Glu393Gly
NM_001349241.1:c.1838A>G NP_001336170.1:p.Glu613Gly
NM_001349241.2:c.1838A>G NP_001336170.1:p.Glu613Gly
NM_001349242.1:c.1721A>G NP_001336171.1:p.Glu574Gly
NM_001349242.2:c.1721A>G NP_001336171.1:p.Glu574Gly
NM_001349243.1:c.1283A>G NP_001336172.1:p.Glu428Gly
NM_001349243.2:c.1283A>G NP_001336172.1:p.Glu428Gly
NM_001364599.1:c.1868A>G NP_001351528.1:p.Glu623Gly
NM_001364603.1:c.1145A>G NP_001351532.1:p.Glu382Gly
NM_001364604.1:c.1283A>G NP_001351533.1:p.Glu428Gly
NM_006203.4:c.1643A>G NP_006194.2:p.Glu548Gly
NM_006203.5:c.1643A>G NP_006194.2:p.Glu548Gly
ENST00000309641.10:c.1903A>G ENSP00000308485.6:n.1903A>G
ENST00000317118.12:c.1178A>G ENSP00000321739.8:p.Glu393Gly
ENST00000340635.10:c.2051A>G ENSP00000345502.6:p.Glu684Gly
ENST00000358923.10:c.1145A>G ENSP00000351800.6:p.Glu382Gly
ENST00000360047.9:c.1643A>G ENSP00000353152.5:p.Glu548Gly
ENST00000405755.6:c.1685A>G ENSP00000384806.2:p.Glu562Gly
ENST00000502484.6:c.1868A>G ENSP00000423094.2:p.Glu623Gly
ENST00000503258.5:c.1661A>G ENSP00000425605.1:p.Glu554Gly
ENST00000505453.1:c.1145A>G ENSP00000421013.1:p.Glu382Gly
ENST00000507116.5:c.1859A>G ENSP00000424852.1:p.Glu620Gly
ENST00000507116.6:c.1859A>G ENSP00000424852.1:p.Glu620Gly
ENST00000515011.5:n.1787A>G
ENST00000546160.5:c.1658A>G ENSP00000442734.2:p.Glu553Gly
ENST00000636120.1:c.1721A>G ENSP00000490821.1:p.Glu574Gly
XM_005248537.2:c.1721A>G XP_005248594.1:p.Glu574Gly
XM_005248538.3:c.1643A>G XP_005248595.1:p.Glu548Gly
XM_011543469.1:c.2015A>G XP_011541771.1:p.Glu672Gly
XM_011543470.1:c.2015A>G XP_011541772.1:p.Glu672Gly
XM_011543470.2:c.2015A>G XP_011541772.1:p.Glu672Gly
XM_011543471.1:c.1868A>G XP_011541773.1:p.Glu623Gly
XM_011543471.2:c.1868A>G XP_011541773.1:p.Glu623Gly
XM_011543472.1:c.1868A>G XP_011541774.1:p.Glu623Gly
XM_011543473.1:c.1868A>G XP_011541775.1:p.Glu623Gly
XM_011543474.1:c.1838A>G XP_011541776.1:p.Glu613Gly
XM_011543475.1:c.1685A>G XP_011541777.1:p.Glu562Gly
XM_011543476.1:c.1631A>G XP_011541778.1:p.Glu544Gly
XM_011543477.1:c.1610A>G XP_011541779.1:p.Glu537Gly
XM_011543478.1:c.1547A>G XP_011541780.1:p.Glu516Gly
XM_011543479.1:c.1547A>G XP_011541781.1:p.Glu516Gly
XM_017009565.1:c.2015A>G XP_016865054.1:p.Glu672Gly
XM_017009566.1:c.1868A>G XP_016865055.1:p.Glu623Gly
XM_017009567.1:c.1853A>G XP_016865056.1:p.Glu618Gly
XM_024446110.1:c.2015A>G XP_024301878.1:p.Glu672Gly
XM_024446112.1:c.1868A>G XP_024301880.1:p.Glu623Gly