Canonical Allele Identifier: CA573494022

Gene: PDE1C

Linked Data

• dbSNP Id: rs1312127363
• gnomAD v2: 7-32444279-T-G
• gnomAD v3: 7-32404667-T-G
• gnomAD v4: 7-32404667-T-G
• MyVariant Identifiers: chr7:g.32444279T>G (hg19) ; chr7:g.32404667T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.32404667T>G , CM000669.2:g.32404667T>G	GRCh38
NC_000007.13:g.32444279T>G , CM000669.1:g.32444279T>G	GRCh37
NC_000007.12:g.32410804T>G	NCBI36
NG_051183.1:g.28558A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000672256.1:c.310+23155A>C	ENSP00000499831.1:n.310+23155A>C
NM_001322059.1:c.310+23155A>C	NP_001308988.1:n.310+23155A>C
NM_001322059.2:c.310+23155A>C	NP_001308988.1:n.310+23155A>C