Canonical Allele Identifier: CA156183745
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs950562898
gnomAD v3: 7-32404598-C-A
gnomAD v4: 7-32404598-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32404598C>A , CM000669.2:g.32404598C>A GRCh38
NC_000007.13:g.32444210C>A , CM000669.1:g.32444210C>A GRCh37
NC_000007.12:g.32410735C>A NCBI36
NG_051183.1:g.28627G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000672256.1:c.310+23224G>T ENSP00000499831.1:n.310+23224G>T
NM_001322059.1:c.310+23224G>T NP_001308988.1:n.310+23224G>T
NM_001322059.2:c.310+23224G>T NP_001308988.1:n.310+23224G>T