Canonical Allele Identifier: CA12082801

Gene: PDE4D

Linked Data

• dbSNP Id: rs16878037
• gnomAD v2: 5-59709752-C-T
• gnomAD v3: 5-60413925-C-T
• gnomAD v4: 5-60413925-C-T
• MyVariant Identifiers: chr5:g.59709752C>T (hg19) ; chr5:g.60413925C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60413925C>T , CM000667.2:g.60413925C>T	GRCh38
NC_000005.9:g.59709752C>T , CM000667.1:g.59709752C>T	GRCh37
NC_000005.8:g.59745509C>T	NCBI36
NG_027957.1:g.79174G>A
NG_027957.2:g.115405G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502484.6:c.-90+74017G>A	ENSP00000423094.2:n.-90+74017G>A
ENST00000505507.6:c.-213+74017G>A	ENSP00000425910.2:n.-213+74017G>A
ENST00000506024.5:n.71+34712G>A
ENST00000506510.6:n.70+108126G>A
ENST00000509355.5:n.157+74017G>A
ENST00000511382.1:n.124+74017G>A
ENST00000515835.2:c.-213+74017G>A	ENSP00000424281.2:n.-213+74017G>A
NM_001165899.1:c.-90+74017G>A	NP_001159371.1:n.-90+74017G>A
XM_011543472.1:c.-90+108126G>A	XP_011541774.1:n.-90+108126G>A
XM_011543473.1:c.-90+34712G>A	XP_011541775.1:n.-90+34712G>A
NM_001349241.1:c.-193+74017G>A	NP_001336170.1:n.-193+74017G>A
NM_001349243.1:c.-674+74017G>A	NP_001336172.1:n.-674+74017G>A
NM_001364599.1:c.-90+82214G>A	NP_001351528.1:n.-90+82214G>A
XM_017009566.1:c.-139+74017G>A	XP_016865055.1:n.-139+74017G>A
XM_024446110.1:c.-90+108126G>A	XP_024301878.1:n.-90+108126G>A
XM_024446112.1:c.-90+108126G>A	XP_024301880.1:n.-90+108126G>A
NM_001165899.2:c.-90+74017G>A	NP_001159371.1:n.-90+74017G>A
NM_001349241.2:c.-193+74017G>A	NP_001336170.1:n.-193+74017G>A
NM_001349243.2:c.-674+74017G>A	NP_001336172.1:n.-674+74017G>A