Canonical Allele Identifier: CA12610930
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs215659
gnomAD v2: 7-32376851-A-C
gnomAD v3: 7-32337239-A-C
gnomAD v4: 7-32337239-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32337239A>C , CM000669.2:g.32337239A>C GRCh38
NC_000007.13:g.32376851A>C , CM000669.1:g.32376851A>C GRCh37
NC_000007.12:g.32343376A>C NCBI36
NG_051183.1:g.95986T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000672256.1:c.310+90583T>G ENSP00000499831.1:n.310+90583T>G
NM_001322059.1:c.310+90583T>G NP_001308988.1:n.310+90583T>G
NM_001322059.2:c.310+90583T>G NP_001308988.1:n.310+90583T>G