Canonical Allele Identifier: CA156183802
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs891631245
gnomAD v3: 7-32404728-G-C
gnomAD v4: 7-32404728-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32404728G>C , CM000669.2:g.32404728G>C GRCh38
NC_000007.13:g.32444340G>C , CM000669.1:g.32444340G>C GRCh37
NC_000007.12:g.32410865G>C NCBI36
NG_051183.1:g.28497C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000672256.1:c.310+23094C>G ENSP00000499831.1:n.310+23094C>G
NM_001322059.1:c.310+23094C>G NP_001308988.1:n.310+23094C>G
NM_001322059.2:c.310+23094C>G NP_001308988.1:n.310+23094C>G