Canonical Allele Identifier: CA119456648

Gene: PDE4D

Linked Data

• dbSNP Id: rs569277106
• gnomAD v2: 5-59709793-C-G
• gnomAD v3: 5-60413966-C-G
• gnomAD v4: 5-60413966-C-G
• MyVariant Identifiers: chr5:g.59709793C>G (hg19) ; chr5:g.60413966C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60413966C>G , CM000667.2:g.60413966C>G	GRCh38
NC_000005.9:g.59709793C>G , CM000667.1:g.59709793C>G	GRCh37
NC_000005.8:g.59745550C>G	NCBI36
NG_027957.1:g.79133G>C
NG_027957.2:g.115364G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502484.6:c.-90+73976G>C	ENSP00000423094.2:n.-90+73976G>C
ENST00000505507.6:c.-213+73976G>C	ENSP00000425910.2:n.-213+73976G>C
ENST00000506024.5:n.71+34671G>C
ENST00000506510.6:n.70+108085G>C
ENST00000509355.5:n.157+73976G>C
ENST00000511382.1:n.124+73976G>C
ENST00000515835.2:c.-213+73976G>C	ENSP00000424281.2:n.-213+73976G>C
NM_001165899.1:c.-90+73976G>C	NP_001159371.1:n.-90+73976G>C
XM_011543472.1:c.-90+108085G>C	XP_011541774.1:n.-90+108085G>C
XM_011543473.1:c.-90+34671G>C	XP_011541775.1:n.-90+34671G>C
NM_001349241.1:c.-193+73976G>C	NP_001336170.1:n.-193+73976G>C
NM_001349243.1:c.-674+73976G>C	NP_001336172.1:n.-674+73976G>C
NM_001364599.1:c.-90+82173G>C	NP_001351528.1:n.-90+82173G>C
XM_017009566.1:c.-139+73976G>C	XP_016865055.1:n.-139+73976G>C
XM_024446110.1:c.-90+108085G>C	XP_024301878.1:n.-90+108085G>C
XM_024446112.1:c.-90+108085G>C	XP_024301880.1:n.-90+108085G>C
NM_001165899.2:c.-90+73976G>C	NP_001159371.1:n.-90+73976G>C
NM_001349241.2:c.-193+73976G>C	NP_001336170.1:n.-193+73976G>C
NM_001349243.2:c.-674+73976G>C	NP_001336172.1:n.-674+73976G>C