Canonical Allele Identifier: CA15524629
Gene: PDE1C HGNC NCBI
dbSNP:
10237735
gnomAD v2:
7:32376748 C / T
gnomAD v3:
7:32337136 C / T
gnomAD v4:
chr7-32337136-C-T
Joint Max Group AF 0.24202136 (AFR)
Genomes Max Group AF 0.24202136 (AFR)
MyVariant.info:
GRCh38 chr7:g.32337136C>T
GRCh37 chr7:g.32376748C>T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32337136C>T , CM000669.2:g.32337136C>T GRCh38
NC_000007.13:g.32376748C>T , CM000669.1:g.32376748C>T GRCh37
NC_000007.12:g.32343273C>T NCBI36
NG_051183.1:g.96089G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000672256.1:c.310+90686G>A ENSP00000499831.1:n.310+90686G>A
NM_001322059.1:c.310+90686G>A NP_001308988.1:n.310+90686G>A
NM_001322059.2:c.310+90686G>A NP_001308988.1:n.310+90686G>A
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