Canonical Allele Identifier: CA156183787
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs1001703345
gnomAD v3: 7-32404721-G-A
gnomAD v4: 7-32404721-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32404721G>A , CM000669.2:g.32404721G>A GRCh38
NC_000007.13:g.32444333G>A , CM000669.1:g.32444333G>A GRCh37
NC_000007.12:g.32410858G>A NCBI36
NG_051183.1:g.28504C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000672256.1:c.310+23101C>T ENSP00000499831.1:n.310+23101C>T
NM_001322059.1:c.310+23101C>T NP_001308988.1:n.310+23101C>T
NM_001322059.2:c.310+23101C>T NP_001308988.1:n.310+23101C>T