Canonical Allele Identifier: CA573721966
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs1295384609
gnomAD v2: 7-32376719-G-T
gnomAD v3: 7-32337107-G-T
gnomAD v4: 7-32337107-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32337107G>T , CM000669.2:g.32337107G>T GRCh38
NC_000007.13:g.32376719G>T , CM000669.1:g.32376719G>T GRCh37
NC_000007.12:g.32343244G>T NCBI36
NG_051183.1:g.96118C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000672256.1:c.310+90715C>A ENSP00000499831.1:n.310+90715C>A
NM_001322059.1:c.310+90715C>A NP_001308988.1:n.310+90715C>A
NM_001322059.2:c.310+90715C>A NP_001308988.1:n.310+90715C>A