Canonical Allele Identifier: CA1076590757

Gene: PDE4D

Linked Data

• dbSNP Id: rs1749206564
• gnomAD v3: 5-60487141-C-T
• gnomAD v4: 5-60487141-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60487141C>T , CM000667.2:g.60487141C>T	GRCh38
NC_000005.9:g.59782968C>T , CM000667.1:g.59782968C>T	GRCh37
NC_000005.8:g.59818725C>T	NCBI36
NG_027957.1:g.5958G>A
NG_027957.2:g.42189G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502484.6:c.-90+801G>A	ENSP00000423094.2:n.-90+801G>A
ENST00000505507.6:c.-213+801G>A	ENSP00000425910.2:n.-213+801G>A
ENST00000506510.6:n.70+34910G>A
ENST00000509355.5:n.157+801G>A
ENST00000511382.1:n.124+801G>A
ENST00000515835.2:c.-213+801G>A	ENSP00000424281.2:n.-213+801G>A
NM_001165899.1:c.-90+801G>A	NP_001159371.1:n.-90+801G>A
XM_011543472.1:c.-90+34910G>A	XP_011541774.1:n.-90+34910G>A
NM_001349241.1:c.-193+801G>A	NP_001336170.1:n.-193+801G>A
NM_001349243.1:c.-674+801G>A	NP_001336172.1:n.-674+801G>A
NM_001364599.1:c.-90+8998G>A	NP_001351528.1:n.-90+8998G>A
XM_017009566.1:c.-139+801G>A	XP_016865055.1:n.-139+801G>A
XM_024446110.1:c.-90+34910G>A	XP_024301878.1:n.-90+34910G>A
XM_024446112.1:c.-90+34910G>A	XP_024301880.1:n.-90+34910G>A
NM_001165899.2:c.-90+801G>A	NP_001159371.1:n.-90+801G>A
NM_001349241.2:c.-193+801G>A	NP_001336170.1:n.-193+801G>A
NM_001349243.2:c.-674+801G>A	NP_001336172.1:n.-674+801G>A