Canonical Allele Identifier: CA945443472
Gene: PDE3A HGNC NCBI

Linked Data

dbSNP Id: rs1591848166
gnomAD v3: 12-20368737-T-G
gnomAD v4: 12-20368737-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.20368737T>G , CM000674.2:g.20368737T>G GRCh38
NC_000012.11:g.20521671T>G , CM000674.1:g.20521671T>G GRCh37
NC_000012.10:g.20412938T>G NCBI36
NG_030033.1:g.4493T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000359062.4:c.-548T>G MANE Select ENSP00000351957.3:n.-548T>G
XM_006719086.2:c.-548T>G XP_006719149.2:n.-548T>G
NM_000921.5:c.-548T>G MANE Select NP_000912.3:n.-548T>G
NM_001378407.1:c.-548T>G NP_001365336.1:n.-548T>G
NM_001378408.1:c.-1576T>G NP_001365337.1:n.-1576T>G
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