Canonical Allele Identifier: CA573721989
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs1417965267
gnomAD v2: 7-32376912-A-T
gnomAD v3: 7-32337300-A-T
gnomAD v4: 7-32337300-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32337300A>T , CM000669.2:g.32337300A>T GRCh38
NC_000007.13:g.32376912A>T , CM000669.1:g.32376912A>T GRCh37
NC_000007.12:g.32343437A>T NCBI36
NG_051183.1:g.95925T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000672256.1:c.310+90522T>A ENSP00000499831.1:n.310+90522T>A
NM_001322059.1:c.310+90522T>A NP_001308988.1:n.310+90522T>A
NM_001322059.2:c.310+90522T>A NP_001308988.1:n.310+90522T>A