Canonical Allele Identifier: CA837685576
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs1240758427
gnomAD v3: 7-32404547-G-A
gnomAD v4: 7-32404547-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32404547G>A , CM000669.2:g.32404547G>A GRCh38
NC_000007.13:g.32444159G>A , CM000669.1:g.32444159G>A GRCh37
NC_000007.12:g.32410684G>A NCBI36
NG_051183.1:g.28678C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000672256.1:c.310+23275C>T ENSP00000499831.1:n.310+23275C>T
NM_001322059.1:c.310+23275C>T NP_001308988.1:n.310+23275C>T
NM_001322059.2:c.310+23275C>T NP_001308988.1:n.310+23275C>T