Canonical Allele Identifier: CA837685598
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs1290619739
gnomAD v3: 7-32404626-G-A
gnomAD v4: 7-32404626-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32404626G>A , CM000669.2:g.32404626G>A GRCh38
NC_000007.13:g.32444238G>A , CM000669.1:g.32444238G>A GRCh37
NC_000007.12:g.32410763G>A NCBI36
NG_051183.1:g.28599C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000672256.1:c.310+23196C>T ENSP00000499831.1:n.310+23196C>T
NM_001322059.1:c.310+23196C>T NP_001308988.1:n.310+23196C>T
NM_001322059.2:c.310+23196C>T NP_001308988.1:n.310+23196C>T