Canonical Allele Identifier: CA573494032
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs1486834301
gnomAD v2: 7-32444330-C-T
gnomAD v3: 7-32404718-C-T
gnomAD v4: 7-32404718-C-T
MyVariant Identifiers: chr7:g.32444330C>T (hg19) chr7:g.32404718C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32404718C>T , CM000669.2:g.32404718C>T GRCh38
NC_000007.13:g.32444330C>T , CM000669.1:g.32444330C>T GRCh37
NC_000007.12:g.32410855C>T NCBI36
NG_051183.1:g.28507G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000672256.1:c.310+23104G>A ENSP00000499831.1:n.310+23104G>A
NM_001322059.1:c.310+23104G>A NP_001308988.1:n.310+23104G>A
NM_001322059.2:c.310+23104G>A NP_001308988.1:n.310+23104G>A
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