Canonical Allele Identifier: CA119474245

Linked Data

dbSNP Id: rs152312
gnomAD v2: 5-59787816-G-A
gnomAD v3: 5-60491989-G-A
gnomAD v4: 5-60491989-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.60491989G>A , CM000667.2:g.60491989G>A GRCh38
NC_000005.9:g.59787816G>A , CM000667.1:g.59787816G>A GRCh37
NC_000005.8:g.59823573G>A NCBI36
NG_027957.1:g.1110C>T
NG_027957.2:g.37341C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000506510.6:n.70+30062C>T (PDE4D)
NR_024617.1:n.711+3566G>A (PART1)
NR_028509.1:n.492+3566G>A (PART1)
XM_011543472.1:c.-90+30062C>T (PDE4D) XP_011541774.1:n.-90+30062C>T
NM_001364599.1:c.-90+4150C>T (PDE4D) NP_001351528.1:n.-90+4150C>T
XM_024446110.1:c.-90+30062C>T (PDE4D) XP_024301878.1:n.-90+30062C>T
XM_024446112.1:c.-90+30062C>T (PDE4D) XP_024301880.1:n.-90+30062C>T