Canonical Allele Identifier: CA156183852
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs532328234
gnomAD v2: 7-32444487-T-A
gnomAD v3: 7-32404875-T-A
gnomAD v4: 7-32404875-T-A
MyVariant Identifiers: chr7:g.32444487T>A (hg19) chr7:g.32404875T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32404875T>A , CM000669.2:g.32404875T>A GRCh38
NC_000007.13:g.32444487T>A , CM000669.1:g.32444487T>A GRCh37
NC_000007.12:g.32411012T>A NCBI36
NG_051183.1:g.28350A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000672256.1:c.310+22947A>T ENSP00000499831.1:n.310+22947A>T
NM_001322059.1:c.310+22947A>T NP_001308988.1:n.310+22947A>T
NM_001322059.2:c.310+22947A>T NP_001308988.1:n.310+22947A>T
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