Canonical Allele Identifier: CA573494044
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs1435036835
gnomAD v2: 7-32444419-G-T
gnomAD v3: 7-32404807-G-T
gnomAD v4: 7-32404807-G-T
MyVariant Identifiers: chr7:g.32444419G>T (hg19) chr7:g.32404807G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32404807G>T , CM000669.2:g.32404807G>T GRCh38
NC_000007.13:g.32444419G>T , CM000669.1:g.32444419G>T GRCh37
NC_000007.12:g.32410944G>T NCBI36
NG_051183.1:g.28418C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000672256.1:c.310+23015C>A ENSP00000499831.1:n.310+23015C>A
NM_001322059.1:c.310+23015C>A NP_001308988.1:n.310+23015C>A
NM_001322059.2:c.310+23015C>A NP_001308988.1:n.310+23015C>A
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