Canonical Allele Identifier: CA1076590807

Gene: PDE4D

Linked Data

• dbSNP Id: rs1749233550
• gnomAD v3: 5-60487372-T-C
• gnomAD v4: 5-60487372-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60487372T>C , CM000667.2:g.60487372T>C	GRCh38
NC_000005.9:g.59783199T>C , CM000667.1:g.59783199T>C	GRCh37
NC_000005.8:g.59818956T>C	NCBI36
NG_027957.1:g.5727A>G
NG_027957.2:g.41958A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502484.6:c.-90+570A>G	ENSP00000423094.2:n.-90+570A>G
ENST00000505507.6:c.-213+570A>G	ENSP00000425910.2:n.-213+570A>G
ENST00000506510.6:n.70+34679A>G
ENST00000509355.5:n.157+570A>G
ENST00000511382.1:n.124+570A>G
ENST00000515835.2:c.-213+570A>G	ENSP00000424281.2:n.-213+570A>G
NM_001165899.1:c.-90+570A>G	NP_001159371.1:n.-90+570A>G
XM_011543472.1:c.-90+34679A>G	XP_011541774.1:n.-90+34679A>G
NM_001349241.1:c.-193+570A>G	NP_001336170.1:n.-193+570A>G
NM_001349243.1:c.-674+570A>G	NP_001336172.1:n.-674+570A>G
NM_001364599.1:c.-90+8767A>G	NP_001351528.1:n.-90+8767A>G
XM_017009566.1:c.-139+570A>G	XP_016865055.1:n.-139+570A>G
XM_024446110.1:c.-90+34679A>G	XP_024301878.1:n.-90+34679A>G
XM_024446112.1:c.-90+34679A>G	XP_024301880.1:n.-90+34679A>G
NM_001165899.2:c.-90+570A>G	NP_001159371.1:n.-90+570A>G
NM_001349241.2:c.-193+570A>G	NP_001336170.1:n.-193+570A>G
NM_001349243.2:c.-674+570A>G	NP_001336172.1:n.-674+570A>G