Canonical Allele Identifier: CA1099966385
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs1785013194
gnomAD v3: 7-32404514-T-C
gnomAD v4: 7-32404514-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32404514T>C , CM000669.2:g.32404514T>C GRCh38
NC_000007.13:g.32444126T>C , CM000669.1:g.32444126T>C GRCh37
NC_000007.12:g.32410651T>C NCBI36
NG_051183.1:g.28711A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000672256.1:c.310+23308A>G ENSP00000499831.1:n.310+23308A>G
NM_001322059.1:c.310+23308A>G NP_001308988.1:n.310+23308A>G
NM_001322059.2:c.310+23308A>G NP_001308988.1:n.310+23308A>G
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