Canonical Allele Identifier: CA837670981
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs1449389950
gnomAD v3: 7-32337242-A-G
gnomAD v4: 7-32337242-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32337242A>G , CM000669.2:g.32337242A>G GRCh38
NC_000007.13:g.32376854A>G , CM000669.1:g.32376854A>G GRCh37
NC_000007.12:g.32343379A>G NCBI36
NG_051183.1:g.95983T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000672256.1:c.310+90580T>C ENSP00000499831.1:n.310+90580T>C
NM_001322059.1:c.310+90580T>C NP_001308988.1:n.310+90580T>C
NM_001322059.2:c.310+90580T>C NP_001308988.1:n.310+90580T>C