Canonical Allele Identifier: CA1549150249
Community Standard Title: NM_001104631.2(PDE4D):c.911C= (p.Ala304=)
Gene: PDE4D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.59038869G= , CM000667.2:g.59038869G= GRCh38
NC_000005.9:g.58334696G= , CM000667.1:g.58334696G= GRCh37
NC_000005.8:g.58370453G= NCBI36
NG_027957.1:g.1454230C=
NG_027957.2:g.1490461C=

Transcript Alleles

HGVS Amino-acid Change
NM_001104631.2:c.911C= MANE Select NP_001098101.1:p.Ala304=
ENST00000340635.11:c.911C= MANE Select ENSP00000345502.6:p.Ala304=
NM_001104631.1:c.911C= NP_001098101.1:p.Ala304=
NM_001165899.1:c.728C= NP_001159371.1:p.Ala243=
NM_001165899.2:c.728C= NP_001159371.1:p.Ala243=
NM_001197218.1:c.719C= NP_001184147.1:p.Ala240=
NM_001197218.2:c.719C= NP_001184147.1:p.Ala240=
NM_001197219.1:c.545C= NP_001184148.1:p.Ala182=
NM_001197219.2:c.545C= NP_001184148.1:p.Ala182=
NM_001197220.1:c.521C= NP_001184149.1:p.Ala174=
NM_001197220.2:c.521C= NP_001184149.1:p.Ala174=
NM_001197221.1:c.5C= NP_001184150.1:p.Ala2=
NM_001197221.2:c.5C= NP_001184150.1:p.Ala2=
NM_001197222.1:c.239C= NP_001184151.1:p.Ala80=
NM_001197222.2:c.239C= NP_001184151.1:p.Ala80=
NM_001349241.1:c.698C= NP_001336170.1:p.Ala233=
NM_001349241.2:c.698C= NP_001336170.1:p.Ala233=
NM_001349242.1:c.581C= NP_001336171.1:p.Ala194=
NM_001349242.2:c.581C= NP_001336171.1:p.Ala194=
NM_001349243.1:c.143C= NP_001336172.1:p.Ala48=
NM_001349243.2:c.143C= NP_001336172.1:p.Ala48=
NM_001364599.1:c.728C= NP_001351528.1:p.Ala243=
NM_001364603.1:c.5C= NP_001351532.1:p.Ala2=
NM_001364604.1:c.143C= NP_001351533.1:p.Ala48=
NM_006203.4:c.503C= NP_006194.2:p.Ala168=
NM_006203.5:c.503C= NP_006194.2:p.Ala168=
ENST00000309641.10:c.763C= ENSP00000308485.6:n.763C=
ENST00000340635.10:c.911C= ENSP00000345502.6:p.Ala304=
ENST00000358923.10:c.5C= ENSP00000351800.6:p.Ala2=
ENST00000360047.9:c.503C= ENSP00000353152.5:p.Ala168=
ENST00000405053.7:n.472-45404C=
ENST00000405755.6:c.545C= ENSP00000384806.2:p.Ala182=
ENST00000502484.6:c.728C= ENSP00000423094.2:p.Ala243=
ENST00000503258.5:c.521C= ENSP00000425605.1:p.Ala174=
ENST00000505453.1:c.5C= ENSP00000421013.1:p.Ala2=
ENST00000507116.5:c.719C= ENSP00000424852.1:p.Ala240=
ENST00000507116.6:c.719C= ENSP00000424852.1:p.Ala240=
ENST00000515011.5:n.647C=
ENST00000546160.5:c.518C= ENSP00000442734.2:p.Ala173=
ENST00000636120.1:c.581C= ENSP00000490821.1:p.Ala194=
XM_005248537.2:c.581C= XP_005248594.1:p.Ala194=
XM_005248538.3:c.503C= XP_005248595.1:p.Ala168=
XM_011543469.1:c.875C= XP_011541771.1:p.Ala292=
XM_011543470.1:c.875C= XP_011541772.1:p.Ala292=
XM_011543470.2:c.875C= XP_011541772.1:p.Ala292=
XM_011543471.1:c.728C= XP_011541773.1:p.Ala243=
XM_011543471.2:c.728C= XP_011541773.1:p.Ala243=
XM_011543472.1:c.728C= XP_011541774.1:p.Ala243=
XM_011543473.1:c.728C= XP_011541775.1:p.Ala243=
XM_011543474.1:c.698C= XP_011541776.1:p.Ala233=
XM_011543475.1:c.545C= XP_011541777.1:p.Ala182=
XM_011543476.1:c.491C= XP_011541778.1:p.Ala164=
XM_011543477.1:c.470C= XP_011541779.1:p.Ala157=
XM_011543478.1:c.407C= XP_011541780.1:p.Ala136=
XM_011543479.1:c.407C= XP_011541781.1:p.Ala136=
XM_017009565.1:c.875C= XP_016865054.1:p.Ala292=
XM_017009566.1:c.728C= XP_016865055.1:p.Ala243=
XM_017009567.1:c.713C= XP_016865056.1:p.Ala238=
XM_024446110.1:c.875C= XP_024301878.1:p.Ala292=
XM_024446112.1:c.728C= XP_024301880.1:p.Ala243=
XR_948360.1:n.838+3751G=