Canonical Allele Identifier: CA444673276
Community Standard Title: NM_001104631.2(PDE4D):c.240C>G (p.Pro80=)
Gene: PDE4D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.59893383G>C , CM000667.2:g.59893383G>C GRCh38
NC_000005.9:g.59189210G>C , CM000667.1:g.59189210G>C GRCh37
NC_000005.8:g.59224967G>C NCBI36
NG_027957.1:g.599716C>G
NG_027957.2:g.635947C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001104631.2:c.240C>G MANE Select NP_001098101.1:p.Pro80=
ENST00000340635.11:c.240C>G MANE Select ENSP00000345502.6:p.Pro80=
NM_001104631.1:c.240C>G NP_001098101.1:p.Pro80=
NM_001165899.1:c.272+95105C>G NP_001159371.1:n.272+95105C>G
NM_001165899.2:c.272+95105C>G NP_001159371.1:n.272+95105C>G
NM_001349241.1:c.242+95105C>G NP_001336170.1:n.242+95105C>G
NM_001349241.2:c.242+95105C>G NP_001336170.1:n.242+95105C>G
NM_001349243.1:c.-240+95105C>G NP_001336172.1:n.-240+95105C>G
NM_001349243.2:c.-240+95105C>G NP_001336172.1:n.-240+95105C>G
NM_001364599.1:c.272+95105C>G NP_001351528.1:n.272+95105C>G
NM_001364600.1:c.272+95105C>G NP_001351529.1:n.272+95105C>G
NM_001364600.2:c.272+95105C>G NP_001351529.1:n.272+95105C>G
ENST00000340635.10:c.240C>G ENSP00000345502.6:p.Pro80=
ENST00000502484.6:c.272+95105C>G ENSP00000423094.2:n.272+95105C>G
ENST00000512069.6:n.217+95105C>G
ENST00000514231.1:n.145+95105C>G
XM_011543469.1:c.419+95105C>G XP_011541771.1:n.419+95105C>G
XM_011543470.1:c.419+95105C>G XP_011541772.1:n.419+95105C>G
XM_011543470.2:c.419+95105C>G XP_011541772.1:n.419+95105C>G
XM_011543471.1:c.272+95105C>G XP_011541773.1:n.272+95105C>G
XM_011543471.2:c.272+95105C>G XP_011541773.1:n.272+95105C>G
XM_011543472.1:c.272+95105C>G XP_011541774.1:n.272+95105C>G
XM_011543473.1:c.272+95105C>G XP_011541775.1:n.272+95105C>G
XM_011543474.1:c.242+95105C>G XP_011541776.1:n.242+95105C>G
XM_017009565.1:c.419+95105C>G XP_016865054.1:n.419+95105C>G
XM_017009566.1:c.272+95105C>G XP_016865055.1:n.272+95105C>G
XM_017009567.1:c.257+95105C>G XP_016865056.1:n.257+95105C>G
XM_024446110.1:c.419+95105C>G XP_024301878.1:n.419+95105C>G
XM_024446112.1:c.272+95105C>G XP_024301880.1:n.272+95105C>G