Canonical Allele Identifier: CA837685584
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs1312324578
gnomAD v3: 7-32404588-T-G
gnomAD v4: 7-32404588-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32404588T>G , CM000669.2:g.32404588T>G GRCh38
NC_000007.13:g.32444200T>G , CM000669.1:g.32444200T>G GRCh37
NC_000007.12:g.32410725T>G NCBI36
NG_051183.1:g.28637A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000672256.1:c.310+23234A>C ENSP00000499831.1:n.310+23234A>C
NM_001322059.1:c.310+23234A>C NP_001308988.1:n.310+23234A>C
NM_001322059.2:c.310+23234A>C NP_001308988.1:n.310+23234A>C