Canonical Allele Identifier: CA573494014
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs1240758427
gnomAD v2: 7-32444159-G-C
gnomAD v3: 7-32404547-G-C
gnomAD v4: 7-32404547-G-C
MyVariant Identifiers: chr7:g.32444159G>C (hg19) chr7:g.32404547G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32404547G>C , CM000669.2:g.32404547G>C GRCh38
NC_000007.13:g.32444159G>C , CM000669.1:g.32444159G>C GRCh37
NC_000007.12:g.32410684G>C NCBI36
NG_051183.1:g.28678C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000672256.1:c.310+23275C>G ENSP00000499831.1:n.310+23275C>G
NM_001322059.1:c.310+23275C>G NP_001308988.1:n.310+23275C>G
NM_001322059.2:c.310+23275C>G NP_001308988.1:n.310+23275C>G
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