Canonical Allele Identifier: CA156638789
Gene: PDE1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.31878839T>C , CM000669.2:g.31878839T>C GRCh38
NC_000007.13:g.31918452T>C , CM000669.1:g.31918452T>C GRCh37
NC_000007.12:g.31884977T>C NCBI36
NG_051183.1:g.554386A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001191057.4:c.425+157A>G MANE Select NP_001177986.1:n.425+157A>G
ENST00000396191.6:c.425+157A>G MANE Select ENSP00000379494.1:n.425+157A>G
NM_001191056.2:c.425+157A>G NP_001177985.1:n.425+157A>G
NM_001191056.3:c.425+157A>G NP_001177985.1:n.425+157A>G
NM_001191057.2:c.425+157A>G NP_001177986.1:n.425+157A>G
NM_001191057.3:c.425+157A>G NP_001177986.1:n.425+157A>G
NM_001191058.2:c.605+157A>G NP_001177987.2:n.605+157A>G
NM_001191058.3:c.605+157A>G NP_001177987.2:n.605+157A>G
NM_001191058.4:c.605+157A>G NP_001177987.2:n.605+157A>G
NM_001191059.2:c.425+157A>G NP_001177988.1:n.425+157A>G
NM_001191059.3:c.425+157A>G NP_001177988.1:n.425+157A>G
NM_001191059.4:c.425+157A>G NP_001177988.1:n.425+157A>G
NM_001322055.1:c.425+157A>G NP_001308984.1:n.425+157A>G
NM_001322055.2:c.425+157A>G NP_001308984.1:n.425+157A>G
NM_001322056.1:c.425+157A>G NP_001308985.1:n.425+157A>G
NM_001322056.2:c.425+157A>G NP_001308985.1:n.425+157A>G
NM_001322057.1:c.425+157A>G NP_001308986.1:n.425+157A>G
NM_001322057.2:c.425+157A>G NP_001308986.1:n.425+157A>G
NM_001322058.1:c.605+157A>G NP_001308987.1:n.605+157A>G
NM_001322058.2:c.605+157A>G NP_001308987.1:n.605+157A>G
NM_001322059.1:c.830+157A>G NP_001308988.1:n.830+157A>G
NM_001322059.2:c.830+157A>G NP_001308988.1:n.830+157A>G
NM_005020.3:c.425+157A>G NP_005011.1:n.425+157A>G
NM_005020.4:c.425+157A>G NP_005011.1:n.425+157A>G
NM_005020.5:c.425+157A>G NP_005011.1:n.425+157A>G
ENST00000321453.11:c.425+157A>G ENSP00000318105.7:n.425+157A>G
ENST00000321453.12:c.425+157A>G ENSP00000318105.7:n.425+157A>G
ENST00000396182.6:c.425+157A>G ENSP00000379485.2:n.425+157A>G
ENST00000396184.7:c.425+157A>G ENSP00000379487.3:n.425+157A>G
ENST00000396191.5:c.425+157A>G ENSP00000379494.1:n.425+157A>G
ENST00000396193.5:c.605+157A>G ENSP00000379496.1:n.605+157A>G
ENST00000464881.1:n.438+157A>G
ENST00000482681.5:n.289+157A>G
XM_005249768.3:c.605+157A>G XP_005249825.2:n.605+157A>G
XM_011515410.1:c.605+157A>G XP_011513712.1:n.605+157A>G
XM_011515411.1:c.605+157A>G XP_011513713.1:n.605+157A>G
XM_011515412.1:c.425+157A>G XP_011513714.1:n.425+157A>G
XM_011515413.1:c.425+157A>G XP_011513715.1:n.425+157A>G
XM_011515414.1:c.605+157A>G XP_011513716.1:n.605+157A>G
XM_017012264.1:c.710+157A>G XP_016867753.1:n.710+157A>G
XM_017012265.1:c.545+157A>G XP_016867754.1:n.545+157A>G
XM_017012266.1:c.710+157A>G XP_016867755.1:n.710+157A>G
XM_017012267.1:c.425+157A>G XP_016867756.1:n.425+157A>G
XR_001744802.1:n.725+157A>G
XR_001744803.1:n.725+157A>G
XR_001744804.1:n.725+157A>G
XR_001744805.1:n.725+157A>G
XR_001744806.1:n.886+157A>G
XR_002956451.1:n.886+157A>G