Canonical Allele Identifier: CA156183764
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs143934140
gnomAD v2: 7-32444255-T-A
gnomAD v3: 7-32404643-T-A
gnomAD v4: 7-32404643-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32404643T>A , CM000669.2:g.32404643T>A GRCh38
NC_000007.13:g.32444255T>A , CM000669.1:g.32444255T>A GRCh37
NC_000007.12:g.32410780T>A NCBI36
NG_051183.1:g.28582A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000672256.1:c.310+23179A>T ENSP00000499831.1:n.310+23179A>T
NM_001322059.1:c.310+23179A>T NP_001308988.1:n.310+23179A>T
NM_001322059.2:c.310+23179A>T NP_001308988.1:n.310+23179A>T