Canonical Allele Identifier: CA119474246

Gene: PDE4D PART1

Linked Data

• dbSNP Id: rs152312
• gnomAD v2: 5-59787816-G-T
• gnomAD v3: 5-60491989-G-T
• gnomAD v4: 5-60491989-G-T
• MyVariant Identifiers: chr5:g.59787816G>T (hg19) ; chr5:g.60491989G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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