Canonical Allele Identifier: CA15524629
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs10237735
gnomAD v2: 7-32376748-C-T
gnomAD v3: 7-32337136-C-T
gnomAD v4: 7-32337136-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32337136C>T , CM000669.2:g.32337136C>T GRCh38
NC_000007.13:g.32376748C>T , CM000669.1:g.32376748C>T GRCh37
NC_000007.12:g.32343273C>T NCBI36
NG_051183.1:g.96089G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000672256.1:c.310+90686G>A ENSP00000499831.1:n.310+90686G>A
NM_001322059.1:c.310+90686G>A NP_001308988.1:n.310+90686G>A
NM_001322059.2:c.310+90686G>A NP_001308988.1:n.310+90686G>A