Canonical Allele Identifier: CA2595192092
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs1783643881
gnomAD v3: 7-32337233-C-A
gnomAD v4: 7-32337233-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32337233C>A , CM000669.2:g.32337233C>A GRCh38
NC_000007.13:g.32376845C>A , CM000669.1:g.32376845C>A GRCh37
NC_000007.12:g.32343370C>A NCBI36
NG_051183.1:g.95992G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000672256.1:c.310+90589G>T ENSP00000499831.1:n.310+90589G>T
NM_001322059.1:c.310+90589G>T NP_001308988.1:n.310+90589G>T
NM_001322059.2:c.310+90589G>T NP_001308988.1:n.310+90589G>T
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