Canonical Allele Identifier: CA359818010
Community Standard Title: NM_001104631.2(PDE4D):c.998T>C (p.Ile333Thr)
Gene: PDE4D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.58993389A>G , CM000667.2:g.58993389A>G GRCh38
NC_000005.9:g.58289216A>G , CM000667.1:g.58289216A>G GRCh37
NC_000005.8:g.58324973A>G NCBI36
NG_027957.1:g.1499710T>C
NG_027957.2:g.1535941T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001104631.2:c.998T>C MANE Select NP_001098101.1:p.Ile333Thr
ENST00000340635.11:c.998T>C MANE Select ENSP00000345502.6:p.Ile333Thr
NM_001104631.1:c.998T>C NP_001098101.1:p.Ile333Thr
NM_001165899.1:c.815T>C NP_001159371.1:p.Ile272Thr
NM_001165899.2:c.815T>C NP_001159371.1:p.Ile272Thr
NM_001197218.1:c.806T>C NP_001184147.1:p.Ile269Thr
NM_001197218.2:c.806T>C NP_001184147.1:p.Ile269Thr
NM_001197219.1:c.632T>C NP_001184148.1:p.Ile211Thr
NM_001197219.2:c.632T>C NP_001184148.1:p.Ile211Thr
NM_001197220.1:c.608T>C NP_001184149.1:p.Ile203Thr
NM_001197220.2:c.608T>C NP_001184149.1:p.Ile203Thr
NM_001197221.1:c.92T>C NP_001184150.1:p.Ile31Thr
NM_001197221.2:c.92T>C NP_001184150.1:p.Ile31Thr
NM_001197222.1:c.326T>C NP_001184151.1:p.Ile109Thr
NM_001197222.2:c.326T>C NP_001184151.1:p.Ile109Thr
NM_001197223.1:c.125T>C NP_001184152.1:p.Ile42Thr
NM_001197223.2:c.125T>C NP_001184152.1:p.Ile42Thr
NM_001349241.1:c.785T>C NP_001336170.1:p.Ile262Thr
NM_001349241.2:c.785T>C NP_001336170.1:p.Ile262Thr
NM_001349242.1:c.668T>C NP_001336171.1:p.Ile223Thr
NM_001349242.2:c.668T>C NP_001336171.1:p.Ile223Thr
NM_001349243.1:c.230T>C NP_001336172.1:p.Ile77Thr
NM_001349243.2:c.230T>C NP_001336172.1:p.Ile77Thr
NM_001364599.1:c.815T>C NP_001351528.1:p.Ile272Thr
NM_001364603.1:c.92T>C NP_001351532.1:p.Ile31Thr
NM_001364604.1:c.230T>C NP_001351533.1:p.Ile77Thr
NM_006203.4:c.590T>C NP_006194.2:p.Ile197Thr
NM_006203.5:c.590T>C NP_006194.2:p.Ile197Thr
ENST00000309641.10:c.850T>C ENSP00000308485.6:n.850T>C
ENST00000317118.12:c.125T>C ENSP00000321739.8:p.Ile42Thr
ENST00000340635.10:c.998T>C ENSP00000345502.6:p.Ile333Thr
ENST00000358923.10:c.92T>C ENSP00000351800.6:p.Ile31Thr
ENST00000360047.9:c.590T>C ENSP00000353152.5:p.Ile197Thr
ENST00000405755.6:c.632T>C ENSP00000384806.2:p.Ile211Thr
ENST00000502484.6:c.815T>C ENSP00000423094.2:p.Ile272Thr
ENST00000503258.5:c.608T>C ENSP00000425605.1:p.Ile203Thr
ENST00000505453.1:c.92T>C ENSP00000421013.1:p.Ile31Thr
ENST00000507116.5:c.806T>C ENSP00000424852.1:p.Ile269Thr
ENST00000507116.6:c.806T>C ENSP00000424852.1:p.Ile269Thr
ENST00000515011.5:n.734T>C
ENST00000546160.5:c.605T>C ENSP00000442734.2:p.Ile202Thr
ENST00000636120.1:c.668T>C ENSP00000490821.1:p.Ile223Thr
XM_005248537.2:c.668T>C XP_005248594.1:p.Ile223Thr
XM_005248538.3:c.590T>C XP_005248595.1:p.Ile197Thr
XM_011543469.1:c.962T>C XP_011541771.1:p.Ile321Thr
XM_011543470.1:c.962T>C XP_011541772.1:p.Ile321Thr
XM_011543470.2:c.962T>C XP_011541772.1:p.Ile321Thr
XM_011543471.1:c.815T>C XP_011541773.1:p.Ile272Thr
XM_011543471.2:c.815T>C XP_011541773.1:p.Ile272Thr
XM_011543472.1:c.815T>C XP_011541774.1:p.Ile272Thr
XM_011543473.1:c.815T>C XP_011541775.1:p.Ile272Thr
XM_011543474.1:c.785T>C XP_011541776.1:p.Ile262Thr
XM_011543475.1:c.632T>C XP_011541777.1:p.Ile211Thr
XM_011543476.1:c.578T>C XP_011541778.1:p.Ile193Thr
XM_011543477.1:c.557T>C XP_011541779.1:p.Ile186Thr
XM_011543478.1:c.494T>C XP_011541780.1:p.Ile165Thr
XM_011543479.1:c.494T>C XP_011541781.1:p.Ile165Thr
XM_017009565.1:c.962T>C XP_016865054.1:p.Ile321Thr
XM_017009566.1:c.815T>C XP_016865055.1:p.Ile272Thr
XM_017009567.1:c.800T>C XP_016865056.1:p.Ile267Thr
XM_024446110.1:c.962T>C XP_024301878.1:p.Ile321Thr
XM_024446112.1:c.815T>C XP_024301880.1:p.Ile272Thr