Canonical Allele Identifier: CA119473817
Gene: PDE4D HGNC NCBI

Linked Data

dbSNP Id: rs969366503
gnomAD v2: 5-59783052-T-C
gnomAD v3: 5-60487225-T-C
gnomAD v4: 5-60487225-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.60487225T>C , CM000667.2:g.60487225T>C GRCh38
NC_000005.9:g.59783052T>C , CM000667.1:g.59783052T>C GRCh37
NC_000005.8:g.59818809T>C NCBI36
NG_027957.1:g.5874A>G
NG_027957.2:g.42105A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000502484.6:c.-90+717A>G ENSP00000423094.2:n.-90+717A>G
ENST00000505507.6:c.-213+717A>G ENSP00000425910.2:n.-213+717A>G
ENST00000506510.6:n.70+34826A>G
ENST00000509355.5:n.157+717A>G
ENST00000511382.1:n.124+717A>G
ENST00000515835.2:c.-213+717A>G ENSP00000424281.2:n.-213+717A>G
NM_001165899.1:c.-90+717A>G NP_001159371.1:n.-90+717A>G
XM_011543472.1:c.-90+34826A>G XP_011541774.1:n.-90+34826A>G
NM_001349241.1:c.-193+717A>G NP_001336170.1:n.-193+717A>G
NM_001349243.1:c.-674+717A>G NP_001336172.1:n.-674+717A>G
NM_001364599.1:c.-90+8914A>G NP_001351528.1:n.-90+8914A>G
XM_017009566.1:c.-139+717A>G XP_016865055.1:n.-139+717A>G
XM_024446110.1:c.-90+34826A>G XP_024301878.1:n.-90+34826A>G
XM_024446112.1:c.-90+34826A>G XP_024301880.1:n.-90+34826A>G
NM_001165899.2:c.-90+717A>G NP_001159371.1:n.-90+717A>G
NM_001349241.2:c.-193+717A>G NP_001336170.1:n.-193+717A>G
NM_001349243.2:c.-674+717A>G NP_001336172.1:n.-674+717A>G