Canonical Allele Identifier: CA156691422
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs368028511
gnomAD v2: 7-32376729-G-T
gnomAD v3: 7-32337117-G-T
gnomAD v4: 7-32337117-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32337117G>T , CM000669.2:g.32337117G>T GRCh38
NC_000007.13:g.32376729G>T , CM000669.1:g.32376729G>T GRCh37
NC_000007.12:g.32343254G>T NCBI36
NG_051183.1:g.96108C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000672256.1:c.310+90705C>A ENSP00000499831.1:n.310+90705C>A
NM_001322059.1:c.310+90705C>A NP_001308988.1:n.310+90705C>A
NM_001322059.2:c.310+90705C>A NP_001308988.1:n.310+90705C>A