Canonical Allele Identifier: CA156691437
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs1024055935
gnomAD v3: 7-32337273-T-A
gnomAD v4: 7-32337273-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32337273T>A , CM000669.2:g.32337273T>A GRCh38
NC_000007.13:g.32376885T>A , CM000669.1:g.32376885T>A GRCh37
NC_000007.12:g.32343410T>A NCBI36
NG_051183.1:g.95952A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000672256.1:c.310+90549A>T ENSP00000499831.1:n.310+90549A>T
NM_001322059.1:c.310+90549A>T NP_001308988.1:n.310+90549A>T
NM_001322059.2:c.310+90549A>T NP_001308988.1:n.310+90549A>T