Canonical Allele Identifier: CA686318101
Gene: PDE3A HGNC NCBI

Linked Data

dbSNP Id: rs1387561575
gnomAD v3: 12-20368758-AAGG-A
gnomAD v4: 12-20368758-AAGG-A
MyVariant Identifiers: chr12:g.20521693_20521695del (hg19) chr12:g.20368759_20368761del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.20368764_20368766del , CM000674.2:g.20368764_20368766del GRCh38
NC_000012.11:g.20521698_20521700del , CM000674.1:g.20521698_20521700del GRCh37
NC_000012.10:g.20412965_20412967del NCBI36
NG_030033.1:g.4520_4522del

Transcript Alleles

HGVS Amino-acid Change
ENST00000359062.4:c.-521_-519del MANE Select ENSP00000351957.3:n.-521_-519del
XM_006719086.2:c.-521_-519del XP_006719149.2:n.-521_-519del
NM_000921.5:c.-521_-519del MANE Select NP_000912.3:n.-521_-519del
NM_001378407.1:c.-521_-519del NP_001365336.1:n.-521_-519del
NM_001378408.1:c.-1549_-1547del NP_001365337.1:n.-1549_-1547del
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