Canonical Allele Identifier: CA6473846
Community Standard Title: NM_000921.5(PDE3A):c.1801C>A (p.Pro601Thr)
Gene: PDE3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.20633733C>A , CM000674.2:g.20633733C>A GRCh38
NC_000012.11:g.20786667C>A , CM000674.1:g.20786667C>A GRCh37
NC_000012.10:g.20677934C>A NCBI36
NG_030033.1:g.269489C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000921.5:c.1801C>A MANE Select NP_000912.3:p.Pro601Thr
ENST00000359062.4:c.1801C>A MANE Select ENSP00000351957.3:p.Pro601Thr
NM_000921.4:c.1801C>A NP_000912.3:p.Pro601Thr
NM_001244683.1:c.835C>A NP_001231612.1:p.Pro279Thr
NM_001244683.2:c.835C>A NP_001231612.1:p.Pro279Thr
NM_001378407.1:c.1541-1169C>A NP_001365336.1:n.1541-1169C>A
NM_001378408.1:c.838C>A NP_001365337.1:p.Pro280Thr
NM_001378409.1:c.835C>A NP_001365338.1:p.Pro279Thr
ENST00000359062.3:c.1801C>A ENSP00000351957.3:p.Pro601Thr
ENST00000544307.1:n.1098C>A
XM_006719086.2:c.1801C>A XP_006719149.2:p.Pro601Thr
XM_017019420.1:c.1801C>A XP_016874909.1:p.Pro601Thr
XM_017019421.2:c.838C>A XP_016874910.1:p.Pro280Thr