Canonical Allele Identifier: CA119473821
Gene: PDE4D HGNC NCBI

Linked Data

dbSNP Id: rs916944968
gnomAD v3: 5-60487268-C-T
gnomAD v4: 5-60487268-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.60487268C>T , CM000667.2:g.60487268C>T GRCh38
NC_000005.9:g.59783095C>T , CM000667.1:g.59783095C>T GRCh37
NC_000005.8:g.59818852C>T NCBI36
NG_027957.1:g.5831G>A
NG_027957.2:g.42062G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000502484.6:c.-90+674G>A ENSP00000423094.2:n.-90+674G>A
ENST00000505507.6:c.-213+674G>A ENSP00000425910.2:n.-213+674G>A
ENST00000506510.6:n.70+34783G>A
ENST00000509355.5:n.157+674G>A
ENST00000511382.1:n.124+674G>A
ENST00000515835.2:c.-213+674G>A ENSP00000424281.2:n.-213+674G>A
NM_001165899.1:c.-90+674G>A NP_001159371.1:n.-90+674G>A
XM_011543472.1:c.-90+34783G>A XP_011541774.1:n.-90+34783G>A
NM_001349241.1:c.-193+674G>A NP_001336170.1:n.-193+674G>A
NM_001349243.1:c.-674+674G>A NP_001336172.1:n.-674+674G>A
NM_001364599.1:c.-90+8871G>A NP_001351528.1:n.-90+8871G>A
XM_017009566.1:c.-139+674G>A XP_016865055.1:n.-139+674G>A
XM_024446110.1:c.-90+34783G>A XP_024301878.1:n.-90+34783G>A
XM_024446112.1:c.-90+34783G>A XP_024301880.1:n.-90+34783G>A
NM_001165899.2:c.-90+674G>A NP_001159371.1:n.-90+674G>A
NM_001349241.2:c.-193+674G>A NP_001336170.1:n.-193+674G>A
NM_001349243.2:c.-674+674G>A NP_001336172.1:n.-674+674G>A