Canonical Allele Identifier: CA1099966479
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs1469292472
gnomAD v3: 7-32404790-C-T
gnomAD v4: 7-32404790-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32404790C>T , CM000669.2:g.32404790C>T GRCh38
NC_000007.13:g.32444402C>T , CM000669.1:g.32444402C>T GRCh37
NC_000007.12:g.32410927C>T NCBI36
NG_051183.1:g.28435G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000672256.1:c.310+23032G>A ENSP00000499831.1:n.310+23032G>A
NM_001322059.1:c.310+23032G>A NP_001308988.1:n.310+23032G>A
NM_001322059.2:c.310+23032G>A NP_001308988.1:n.310+23032G>A