Canonical Allele Identifier: CA156183867
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs891688556
gnomAD v3: 7-32404928-C-G
gnomAD v4: 7-32404928-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32404928C>G , CM000669.2:g.32404928C>G GRCh38
NC_000007.13:g.32444540C>G , CM000669.1:g.32444540C>G GRCh37
NC_000007.12:g.32411065C>G NCBI36
NG_051183.1:g.28297G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000672256.1:c.310+22894G>C ENSP00000499831.1:n.310+22894G>C
NM_001322059.1:c.310+22894G>C NP_001308988.1:n.310+22894G>C
NM_001322059.2:c.310+22894G>C NP_001308988.1:n.310+22894G>C