Canonical Allele Identifier: CA12603434
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs73307846
gnomAD v2: 7-32444241-C-T
gnomAD v3: 7-32404629-C-T
gnomAD v4: 7-32404629-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32404629C>T , CM000669.2:g.32404629C>T GRCh38
NC_000007.13:g.32444241C>T , CM000669.1:g.32444241C>T GRCh37
NC_000007.12:g.32410766C>T NCBI36
NG_051183.1:g.28596G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000672256.1:c.310+23193G>A ENSP00000499831.1:n.310+23193G>A
NM_001322059.1:c.310+23193G>A NP_001308988.1:n.310+23193G>A
NM_001322059.2:c.310+23193G>A NP_001308988.1:n.310+23193G>A