Canonical Allele Identifier: CA156183782
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs575576709
gnomAD v2: 7-32444325-A-G
gnomAD v3: 7-32404713-A-G
gnomAD v4: 7-32404713-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32404713A>G , CM000669.2:g.32404713A>G GRCh38
NC_000007.13:g.32444325A>G , CM000669.1:g.32444325A>G GRCh37
NC_000007.12:g.32410850A>G NCBI36
NG_051183.1:g.28512T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000672256.1:c.310+23109T>C ENSP00000499831.1:n.310+23109T>C
NM_001322059.1:c.310+23109T>C NP_001308988.1:n.310+23109T>C
NM_001322059.2:c.310+23109T>C NP_001308988.1:n.310+23109T>C