Canonical Allele Identifier: CA837685635
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs1474786078
gnomAD v3: 7-32404673-G-A
gnomAD v4: 7-32404673-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32404673G>A , CM000669.2:g.32404673G>A GRCh38
NC_000007.13:g.32444285G>A , CM000669.1:g.32444285G>A GRCh37
NC_000007.12:g.32410810G>A NCBI36
NG_051183.1:g.28552C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000672256.1:c.310+23149C>T ENSP00000499831.1:n.310+23149C>T
NM_001322059.1:c.310+23149C>T NP_001308988.1:n.310+23149C>T
NM_001322059.2:c.310+23149C>T NP_001308988.1:n.310+23149C>T